Can you tell me about the Medical conditions above that form a basis for Compassionate Allowance?

COMPASSIONATE ALLOWANCE INFORMATION

ACUTE LEUKEMIA

DESCRIPTION

Acute Leukemia is a rapidly progressing cancer that starts in the blood-forming tissue such as the bone marrow, and causes large numbers of white blood cells to be produced and enter the blood stream. The early symptoms and signs of acute leukemia may be similar to the flu, and include fatigue, fever, dyspnea, weight loss, bony pain and petechiae (flat pinpoint spots under the skin caused by bleeding).

ALTERNATE NAMES

Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia

DIAGNOSTIC TESTING AND CODING

To diagnose acute leukemia the following may be done: physical exam and history, complete blood count (CBC), peripheral blood smear (procedure in which a sample of blood is checked for the presence of blast cells, number and kinds of white blood cells, the number of platelets and changes in the shape of blood cells), bone marrow aspiration and biopsy, cytogenetic analysis and immunophenotyping. To definitively determine the diagnosis, a bone marrow examination is necessary.

TREATMENT

The treatment of acute leukemia is done in phases. Induction therapy is the first phase of treatment. Its purpose is to kill the leukemia cells in the blood and bone marrow. The goal of this treatment is to induce remission. Post-remission therapy is the second phase of treatment. It begins once the leukemia is in remission. The purpose of post-remission therapy is to kill any remaining leukemia cells that may not be active but could begin to regrow and cause a relapse.
Chemotherapy is the mainstay of treatment used during these phases. It involves the use of a regimen of high-dose, intense drugs and in the case of acute lymphoblastic leukemia, direct installation of chemotherapy into the spinal fluid is used. Also, high-dose stem cell transplantation may be performed. Commonly, individuals develop severe infectious complications.

PROGRESSION

Children and adults with acute leukemia need to be treated immediately. Many times clinical remissions are seen, and in a smaller number of individuals, long-term cures are possible.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: A bone marrow exam is necessary for definitive diagnosis.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

13.06 A or 113.06 A

Acute leukemia currently meets Listings 13.06 A or 113.06 A.

Medical Equals

ADRENAL CANCER

DESCRIPTION

Adrenal Cancer forms in the outer tissue layer of the adrenal gland. Adrenocortical Carcinoma is also called Cancer of the Adrenal Cortex. A tumor of the adrenal cortex may be functioning (producing excess hormones) or non-functioning (not producing hormones). Individuals with the hereditary diseases LiFraumeni Syndrome, Beckwith-Wiedemann Syndrome, and Carney Complex are at risk for Adrenal Cancer.

ALTERNATE NAMES

Adrenal Carcinoma, Adrenocortical Carcinoma, Adrenocortical Cancer, Cancer of the Adrenal Cortex, Carcinoma of the Adrenal Cortex

DIAGNOSTIC TESTING AND CODING

The following may be used to diagnose the disease: x-rays, MRI, CT scan, and laboratory tests including blood and urine analysis.

TREATMENT

Treatment may include surgery, radiation, and/or chemotherapy. Treatment for inoperable or unresectable tumors can be utilized for palliation, but the prognosis is poor.

PROGRESSION

The 5-year survival rate for inoperable or unresectable tumors is less than 10%.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: A pathology report and an operative report are the preferred methods for documentation.
In the absence of these reports, the adjudicator may use a physician's opinion that indicates the cancer is inoperable or unresectable based on described objective findings.
“Inoperable” refers to a physician's opinion that surgery would not be beneficial based on a review of imaging studies, laboratory results, and physical examination findings. Unresectable cancer is established when the operative report indicates that the cancer is not completely removed or the pathology report notes that the surgical specimen has positive margins.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

13.21

Adrenal Cancer that is inoperable, unresectable, recurrent, or with metastases meets Listing 13.21.

Medical Equals

ALEXANDER DISEASE (ALX) - Neonatal and Infantile

DESCRIPTION

Alexander disease (ALX) is one of a group of neurological conditions known as the leukodystrophies, disorders that are the result of abnormalities in myelin, the “white matter” that protects nerve fibers in the brain. ALX is a progressive and usually fatal disease. The destruction of white matter is accompanied by the formation of Rosenthal fibers, which are abnormal clumps of protein that accumulate in non-neuronal cells of the brain called astrocytes. Rosenthal fibers are sometimes found in other disorders, but not in the same amount or area of the brain that are featured in ALX.
Infantile form is the most common type of ALX. It has an onset during the first two years of life. Usually there are both mental and physical developmental delays, followed by the loss of developmental milestones, an abnormal increase in head size, and seizures. The disease occurs in both males and females, and there are no ethnic, racial, geographic, or cultural/economic differences in its distribution.

ALTERNATE NAMES

Alexander Syndrome, Dysmyelogenic Leukodystrophy, Dysmyelogenic Leukodystrophy-Megalobare, Fribrinoid Degeneration of Astrocytes-Infantile type, Fibrinoid Leukodystrophy-Infantile type, Hyaline Panneuropathy, Leukodystrophy with Rosenthal Fibers, Megalencephaly with Hyaline Inclusion, Megalencephaly with Hyaline Panneuropathy

DIAGNOSTIC TESTING AND CODING

A diagnosis of Alexander disease is usually based on radiologic studies including MRI, CT scan or Ultrasound. An MRI of an individual with the infantile form typically reveals white matter loss that involves the frontal lobes of the brain, abnormalities of the basal ganglia and thalamus, possibly, enlargement of the ventricles. Genetic testing is accomplished by looking for known or detectable mutations in the GFAP gene. In up to 94% of cases of ALX, a GFAP mutation is found. Prenatal diagnosis for couples with an affected child can be performed when the mutation responsible for ALX is known. The DNA of a fetus can be tested using cells obtained from chorionic villus sampling (CVS) or amniocentesis.
Prior to the discovery of the gene responsible for the disease, diagnosis of ALX was made by demonstration of Rosenthal fibers in a biopsy or autopsy sample from the brain. Though genetic testing has largely replaced these histologic studies, a brain biopsy or autopsy may be indicated in select cases if the diagnosis cannot be made through other means.

TREATMENT

There is no cure for ALX, nor is there a standard course of treatment. Treatment of ALX is symptomatic and supportive, primarily consisting of attention to general care and nutritional needs, antibiotic therapy for infections, and management of associated complications such as anti-epileptic drug therapy for seizures. Surgical interventions, including placement of a feeding tube and/or shunting for hydrocephalus, may also be required.

PROGRESSION

The prognosis for ALX is generally poor. Most children with the infantile form do not survive past the age of 6.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Clinical evaluation should include a complete history and a detailed, current pediatric and neurological examination. Routine laboratory tests will help rule out other disorders and MRI findings may be characteristic of ALX.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

111.06A or B

ALX (neonatal or infantile) with persistent motor dysfunction as described under 111.06A or B.

110.08A

ALX (neonatal) with confirmed molecular genetic testing.

110.08B

ALX (infantile) with confirmed molecular genetic testing.

Medical Equals

AMYOTROPHIC LATERAL SCLEROSIS (ALS) - Adult

DESCRIPTION

Amyotrophic lateral sclerosis (ALS), sometimes called Lou Gehrig's disease, is a rapidly progressive, invariably fatal neurological disease that attacks the nerve cells (neurons) responsible for controlling voluntary muscles. In ALS, both the upper motor neurons and the lower motor neurons degenerate or die, ceasing to send messages to muscles. Unable to function, the muscles gradually weaken, waste away, and twitch. Eventually the ability of the brain to start and control voluntary movement is lost. Individuals with ALS lose their strength and the ability to move their arms, legs, and body. When muscles in the diaphragm and chest wall fail, individuals lose the ability to breathe without ventilatory support. The disease does not affect a person's ability to see, smell, taste, hear, or recognize touch, and it does not usually impair a person's thinking or other cognitive abilities. However, several recent studies suggest that a small percentage of patients may experience problems with memory or decision-making, and there is growing evidence that some may even develop a form of dementia. The cause of ALS is not known, and scientists do not yet know why ALS strikes some people and not others.

ALTERNATE NAMES

Aran-Duchenne, Gehrig's Disease, Lou Gehrig's Disease, Motor Neuron Disease

DIAGNOSTIC TESTING AND CODING

There is no one test or procedure to establish the diagnosis of ALS. The diagnosis of ALS is based on history, neurological findings consistent with the diagnosis of ALS and eletrophysiological and neuroimaging testing to rule out other impairments that may cause similar signs and symptoms. The diagnosis may be supported by electrophysiological studies (electromyogram [EMG] and nerve conduction study [NCS] but these tests may be negative or only suggestive of the diagnosis.

TREATMENT

No cure has yet been found for ALS. However, the FDA has approved the first drug treatment for the disease-riluzole (Rilutek). Clinical trials with ALS patients showed that riluzole prolongs survival by several months. Riluzole does not reverse the damage already done to motor neurons, and patients taking the drug must be monitored for liver damage and other possible side effects. However, this first disease-specific therapy offers hope that the progression of ALS may one day be slowed by new medications or combinations of drugs. Other treatments for ALS are designed to relieve symptoms and improve the quality of life for patients. Multidisciplinary teams of health care professionals can design an individualized plan of medical and physical therapy and provide special equipment aimed at keeping patients as mobile and comfortable as possible. Physicians can prescribe medications to help reduce fatigue, ease muscle cramps, control spasticity, and reduce excess saliva and phlegm. Drugs also are available to help patients with pain, depression, sleep disturbances, and constipation.

PROGRESSION

Regardless of the part of the body first affected by the disease, muscle weakness and atrophy spread to other parts of the body as the disease progresses. Most individuals with ALS die from respiratory failure, usually within 3 to 5 years from the onset of symptoms.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Documentation of a clinically appropriate medical history, neurological findings consistent with the diagnosis of ALS, and the results of any electrophysiological and neuroimaging testing.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

11.10

Amyotrophic lateral sclerosis.

Medical Equals

ANAPLASTIC ADRENAL CANCER - ADULT

DESCRIPTION

Anaplastic Adrenal Cancer is a sub-type of adrenal cancer which shows virtually no cellular differentiation. It is not associated with overproduction of hormones as is seen in other types of adrenal carcinomas. Abdominal pain is a presenting symptom.

ALTERNATE NAMES

Adrenal Carcinoma, Anaplastic Adrenal Cancer

DIAGNOSTIC TESTING AND CODING

CT and MRI imaging are used in the diagnosis of adrenal lesions, but a biopsy is required for definite diagnosis.

TREATMENT

Radical surgical excision is the treatment for individuals with localized malignancies and remains the only method by which long-term disease-free survival may be achieved.

PROGRESSION

Median survival for anaplastic adrenal cancer is 5 months as compared with a median survival of 40 months for differentiated adrenal cancers.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Imaging studies of CT scan/MRI will suggest a diagnosis which must be confirmed by biopsy.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

13.21

Anaplastic carcinoma of the adrenal gland is evaluated under 13.21 A if inoperable, unresectable, or recurrent. Anaplastic cancer of the adrenal glands with metastases is evaluated under 13.21 B.

Medical Equals

ASTROCYTOMA - GRADE III and IV

DESCRIPTION

Astrocytoma is a tumor that begins in the brain or spinal cord in small, star-shaped cells called astrocytes. Grade III Astrocytomas are moderately malignant. Astrocytomas include anaplastic astrocytomas and sometimes the less malignant of the glioblastoma multiforme group. Grade IV Astrocytomas are highly malignant and include only glioblastoma multiforme types. Cerebellar astrocytomas start in the cerebellum, which is located at the lower back of the brain. The cerebellum is the part of the brain that controls movement, balance, and posture. These tumors affect both adults and children. About 15-25% of all childhood brain tumors are cerebellar astrocytomas. Although cancer is rare in children, brain tumors are the most common type of childhood cancer other than leukemia and lymphoma. The symptoms of astrocytoma vary and often depend on an individual's age and where the tumor is located. Symptoms include: loss of balance, trouble walking, worsening handwriting, slow speech, morning headache or headache that goes away after vomiting, nausea and vomiting, unusual sleepiness or change in energy level, change in personality or behavior and other unexplained weight loss or weight gain.

ALTERNATE NAMES

Astrocytoma Grade III: anaplastic astrocytoma, anaplastic malignant astrocytoma, Astrocytoma Grade IV: glioblastoma multiforme(GBM), glioblastoma, mixed glioblastoma sarcoma, gliosarcoma astrocytoma grade IV, giant cell glioblastoma astrocytoma, spongioblastoma multiforme

DIAGNOSTIC TESTING AND CODING

Diagnostic testing for astrocytoma includes: an examination of the brain and spinal cord, CT scan and MRI (magnetic resonance imaging). In some cases, it is preferable to obtain diagnostic information from CT scans or MRIs rather than from a biopsy. Astrocytoma is removed by surgery. If a brain tumor is suspected, a biopsy is performed.

TREATMENT

Treatment depends on the location of the tumor and its progression. Standard treatment is surgery followed by radiation therapy. If surgery is not an option, radiation therapy is given. Chemotherapy is sometimes given during or after radiation therapy.

PROGRESSION

Astrocytomas tend to grow and become more malignant over time. Brain stem gliomas have relatively poor prognoses. The overall median survival is between 44 and 74 weeks.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: A pathology report. If a pathology report is unavailable a surgical report or all radiological studies especially the MRI and CT scans may be substituted.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

13.13A1

Pathologically confirmed or clinically diagnosed astrocytoma or glioma of the brain stem or thalamus (independent of grade).

13.13A2

Astrocytoma or glioma that recurs or progresses following initial therapy, independent of grade or location.

113.13

Medical Equals

BLADDER CANCER

DESCRIPTION

Bladder Carcinoma is a disease in which malignant cells form in the tissues of the bladder. Most bladder cancers are transitional cell carcinomas. Other types include squamous cell carcinoma and adenocarcinoma. The cells that form squamous cell carcinoma and adenocarcinoma develop in the inner lining of the bladder as a result of chronic irritation and inflammation. Cancer that begins in the transitional cells may spread through the lining of the bladder and invade the muscle wall of the bladder or spread to nearby organs and lymph nodes. This is called Invasive Bladder Cancer.

ALTERNATE NAMES

Invasive Bladder Cancer, Bladder Carcinoma, Invasive Bladder Carcinoma, Transitional Cell Carcinoma of the Bladder, Transitional Cell Cancer of the Bladder, Squamous Cell Carcinoma of the Bladder, Squamous Cell Cancer of the Bladder, Adenocarcinoma of the Bladder, Urinary Cancer, Urinary Carcinoma

DIAGNOSTIC TESTING AND CODING

The following may be used to diagnose the disease: physical exam and history, CT scan, urinalysis, intravenous pyelogram (IVP), cystoscopy (examination of urinary tract), biopsy, and/or urine cytology (microscopic study of cells).
The following may also be used to determine if the cancer has spread: MRI, chest x-ray, and/or bone scan.

TREATMENT

Treatment may include surgery, radiation, chemotherapy, and biologic therapy. Surgical options may include transurethral resection (TUR), radical cystectomy, segmental cystectomy, and/or urinary diversion.
Some patients may receive chemotherapy after surgery. This post-surgical treatment is referred to as adjuvant therapy.

PROGRESSION

If the cancer is inoperable or unresectable, treatment with radiation and/or chemotherapy can be utilized for palliation, but the prognosis is poor.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: A pathology report and an operative report are the preferred methods for documentation.
In the absence of these reports, the adjudicator may use a physician's opinion that indicates the cancer is inoperable or unresectable based on described objective findings.
“Inoperable” refers to a physician's opinion that surgery would not be beneficial based on a review of imaging studies, laboratory results, and physical examination findings. Unresectable cancer is established when the operative report indicates that the cancer is not completely removed or the pathology report notes that the surgical specimen has positive margins.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

13.22 C

Bladder Carcinoma that is inoperable, unresectable, or with metastases meets Listing 13.22 C.

Medical Equals

BONE CANCER

DESCRIPTION

Osteosarcoma is the most common type of bone cancer. It usually affects the large bones of the arm or leg and occurs most often in younger individuals. It affects more males than females. In children and adolescents, tumors appear most often in the bones around the knee.

ALTERNATE NAMES

Osteosarcoma, Bone Carcinoma, Ewing's Sarcoma, Chondrosarcoma, Osteogenic Sarcoma, Multifocal Osteosarcoma, Metastatic Osteosarcoma

DIAGNOSTIC TESTING AND CODING

The following may be used to diagnose the disease: biopsy, x-rays, and/or blood tests.

TREATMENT

If the tumor is inoperable or unresectable, radiation and chemotherapy may be utilized, but the prognosis remains poor.

PROGRESSION

Inoperable or unresectable osteosarcoma will likely progress locally and may spread to the lungs. Radiation is effective as a palliative measure.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: A pathology report and an operative report are the preferred methods for documentation.
In the absence of these reports, the adjudicator may use a physician's opinion that indicates the cancer is inoperable or unresectable based on described objective findings.
“Inoperable” refers to a physician's opinion that surgery would not be beneficial based on a review of imaging studies, laboratory results, and physical examination findings. Unresectable cancer is established when the operative report indicates that the cancer is not completely removed or the pathology report notes that the surgical specimen has positive margins.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

13.11 A or C

Osteosarcoma (bone cancer) that is inoperable, unresectable, or with distant metastases meets Listing 13.11 A or C.

Medical Equals

BREAST CANCER

DESCRIPTION

Breast cancer forms in tissues of the breast, usually the ducts and lobules. It occurs in both men and women, although male breast cancer is rare. Individuals with breast cancer meeting the criteria under the Listing of Impairments have a poor prognosis.

ALTERNATE NAMES

Breast Carcinoma (Stage IV), Metastatic Breast Carcinoma, Metastatic Breast Cancer, Ductal Carcinoma of the Breast (Stage IV), Metastatic Ductal Carcinoma, Metastatic Ductal Cancer, Lobular Carcinoma of the Breast Stage (IV), Metastatic Lobular Cancer, Metastatic Lobular Carcinoma, Recurrent Breast Cancer

DIAGNOSTIC TESTING AND CODING

The following may be used to diagnose the disease: mammogram, clinical breast exam, ultrasound, MRI, or biopsy (needle or incision).

TREATMENT

Treatment may include surgery, chemotherapy, radiation, and hormone therapy.

PROGRESSION

If the cancer is inoperable or unresectable, treatment with radiation or radiation and chemotherapy/hormonal therapy can be employed for palliation.

The 5-year survival rate for individuals with stage IV breast cancer when appropriately treated is 20%. Prognosis is usually poor.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: A pathology report and an operative report are the preferred methods for documentation.
In the absence of these reports, the adjudicator may use a physician's opinion that indicates the cancer is inoperable or unresectable based on described objective findings.
“Inoperable” refers to a physician's opinion that surgery would not be beneficial based on a review of imaging studies, laboratory results, and physical examination findings. Unresectable cancer is established when the operative report indicates that the cancer is not completely removed or the pathology report notes that the surgical specimen has positive margins.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

13.10A, B, or C

Medical Equals

13.10 A

Inoperable or unresectable Breast Cancer equals Listing 13.10A as its prognosis is similar to this listing. (A physician's opinion stating that the cancer is inoperable or an operative note stating that the cancer was not completely resected is required. In place of an operative note, a pathology report indicating positive margins may be substituted.)

CANAVAN DISEASE (CD)

DESCRIPTION

Canavan disease (CD) is a severe progressive inherited (genetic) disorder of the central nervous system (CNS). It is one of the most common cerebral degenerative diseases of infancy, is a gene-linked, neurological birth disorder in which the white matter of the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces. CD is one of a group of genetic disorders known as the leukodystrophies. These diseases cause imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers in the brain. Myelin, which lends its color to the “white matter” of the brain, is a complex substance made up of at least ten different chemicals. Each of the leukodystrophies affects one (and only one) of these substances. CD is caused by mutations in the gene for an enzyme called aspartoacylase. Symptoms of CD, which appear in early infancy and progress rapidly, may include mental retardation, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (floppiness or stiffness), and an abnormally large, poorly controlled head. Paralysis, blindness, or hearing loss may also occur. Children are characteristically quiet and apathetic. Although CD may occur in any ethnic group, it is more frequent among Ashkenazi Jews from eastern Poland, Lithuania, and western Russia, and among Saudi Arabians.

ALTERNATE NAMES

Aminoacylase-2 (ACY2) Deficiency, Aspartoacylase (ASPA) Deficiency, Canavan's Leukodystrophy, Spongy Degeneration of the Central Nervous System or Neuroaxis, Van Bogaert-Bertrand Syndrome

DIAGNOSTIC TESTING AND CODING

Clinical findings leading up to the diagnosis would include:

• Physical findings including the triad of hypotonia (low muscle tone), macrocephaly (abnormally large head) and head lag in an infant age three to five months of age or older.
• CT and MRI abnormalities of the cerebral white matter (relatively spared cerebellum and brain stem white matter).
• Urine gas chromatography-mass spectrometry (GC-MS) finding of elevated N-acetylaspartic acid (NAA).

The test to confirm diagnosis is a full gene sequence analysis of ASPA. Gross deletion/duplication analysis of the entire ASPA gene is performed to detect known and potential novel gross deletions.

TREATMENT

There is no cure, nor is there a standard course of treatment. Treatment is symptomatic and supportive.

PROGRESSION

CD causes brain tissue atrophy cystic cavities resulting in enlargement of the brain and head size. The prognosis for CD is poor. Death usually occurs before age 4.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: The diagnosis is confirmed by genetic testing revealing a mutation in the gene for the aspartoacylase enzyme.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

110.08 B

Canavan Disease confirmed by genetic testing or by laboratory testing for NAA.

111.06 A or B

Clinical diagnosis of CD with motor dysfunction described in the listing.

Medical Equals

110.08 B

Listing 110.08 requires that the impairment be established by genetic testing. In place of CD established by genetic testing, substitute CD established by typical history and neurological findings along with neuroimaging studies with cerebral abnormalities associated with CD.

CEREBRO OCULO FACIO SKELETAL (COFS) SYNDROME

DESCRIPTION

Cerebro oculo facio skeletal (COFS) syndrome is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord that begins before birth. It is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impairment of reflexes. Other findings may include large, low-set ears, small eyes, microcephaly (abnormal smallness of the head), micrognathia (abnormal smallness of the jaws), clenched fists, wide-set nipples, vision impairments, involuntary eye movements, and mental retardation, which can be moderate or severe. Respiratory infections are frequent. A small number of individuals with COFS have a mutation in the “ERCC6” gene and are more appropriately diagnosed as having Cockayne Syndrome Type II. Other individuals with COFS may have defects in the xeroderma pigmentosum genes “XPG” or “XPD”. Still others who are diagnosed with COFS have no identifiable genetic defect and are presumably affected because of mutations in a distinct, as-yet-unknown gene.
NOTE: This disorder is not the same as Cohen's syndrome (cerebral obesity ocular skeletal syndrome).

ALTERNATE NAMES

Cockayne Syndrome-Classical Type I, Cockayne Syndrome-Congenital Type II, Pena Shokeir Syndrome Type II

DIAGNOSTIC TESTING AND CODING

COFS is usually diagnosed at birth. However, ultrasound technology can detect fetuses with COFS at an early stage of pregnancy because the fetus moves very little. Some of the abnormalities result, in part, from a lack of movement.

TREATMENT

Treatment is supportive and symptomatic. Individuals with the disorder often require tube feeding. Because COFS is genetic, genetic counseling is available.

PROGRESSION

COFS is a fatal disease. Death usually occurs by 5 years of age.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Results of genetic testing showing the ERCC6, XPG, or XPD gene mutations, are associated with the syndrome but are not considered alone as diagnostic or confirmatory of COFS syndrome.
The condition is characterized by craniofacial and skeletal abnormalities, severely reduced muscle tone, and impaired reflexes.
Other findings may include: large, low-set ears, small eyes, microcephaly (abnormal smallness of the head), micrognathia (abnormal smallness of the jaws), clenched fists, wide-set nipples, vision impairments, involuntary eye movements, and mental retardation.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

110.08 B

Clinical evidence consistent with COFS syndrome. The results of genetic testing may contribute in confirmation of the diagnosis.

Medical Equals

CHRONIC MYELOGENOUS LEUKEMIA (CML) - BLAST PHASE

DESCRIPTION

Chronic Myelogenous Leukemia (CML) is classified by phase: chronic, accelerated and blast phases. The accelerated and blast phases of CML refer to those phases of the disease when increased immature white blood cells (blasts) are made and do not mature. When this happens, the disease behaves similarly to acute leukemia. Symptoms include fever: night sweats, bone pain and weight loss. When tiredness, fever, and an enlarged spleen occur during the blast phase, it is called blast crisis.

ALTERNATE NAMES

Chronic Myeloid Leukemia (Blast phase), CML (Blast phase), Chronic Granulocytic Leukemia (Blast phase)

DIAGNOSTIC TESTING AND CODING

CML is diagnosed with tests and procedures such as: complete blood count (CBC), bone marrow aspiration and biopsy, cytogenic analysis of the blood and/or bone marrow and reports that address the Philadelphia chromosome and molecular assay of the blood or bone marrow looking for bcr-abl gene. In order to diagnose the blast phase at least 20% of peripheral white blood cells or nucleated bone marrow cells must be blasts.

TREATMENT

Treatment of CML has improved with the use of tyrosine kinase inhibitors which block the action of this molecule and its effects on white blood cell production. Standard chemotherapy agents are used along with immunotherapy (interferon) and bone marrow transplantation.

PROGRESSION

Blast phase is the final phase in the evolution of CML. It behaves like acute leukemia with rapid progression and short survival.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Results of a Complete Blood Count (CBC) exam and bone marrow examinations.
If necessary, cytogenetic (chromosome) studies and molecular analyses can provide additional confirmative information.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

13.06 B 1

Chronic Myelogenous Leukemia, blast phase currently meets Listing 13.06 B 1

Medical Equals

CREUTZFELDT-JAKOB DISEASE (CJD) - Adult

DESCRIPTION

Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, invariably fatal brain disorder primarily characterized by mental deterioration, although motor problems can be significant in many cases. CJD belongs to a group of human and animal diseases known as transmissible spongiform encephalopathies (TSE) or prion diseases. Spongiform refers to the characteristic appearance of infected brains, which become filled with holes until they resemble sponges under a microscope. Typically, onset of symptoms occurs at about age 60 and runs a rapid course. There are four major categories of CJD: sporadic CJD, hereditary CJD, acquired or iatrogenic CJD and variant CJD.
Sporadic CJD is the most common form of the disease. It accounts for 85% of cases. The cause of sporadic CJD is unknown, but it is believed that a normal cellular protein undergoes a spontaneous change in conformation (prion protein) that results in the disease. This form of the disease is believed to be spontaneous and not the result of an infection.
Hereditary or familial CJD is a very uncommon disease and the consequence of a mutation in the gene that encodes the prion protein. About 5 to 10 percent of cases of CJD in the United States are hereditary.
Acquired or Iatrogenic CJD is also very rare accounting for less than 1% of cases. It results from the accidental transmission during the course of medical interventions. Examples include transmission in cases of corneal transplantation, dural grafts, or treatment with Human Growth Hormone isolated from cadaveric pituitary glands.
Variant CJD was first reported in 1996. It is believed to be the result of eating meat from cattle with bovine spongiform encephalopathy (BSE or mad cow disease). In contrast with sporadic CJD which affects older people, the variant form primarily affects young subjects (i.e., in the late 20s) and may have a longer course, between one and two years.

ALTERNATE NAMES

Jakob-Creutzfeldt Disease, Jakobs Disease, Subacute Spongiform Encephalopathy, Variant (V-CJD) Bovine Spongiform Encephalopathy (BSE), Fatal Familial Insomnia (FFI), Gerstmann-Straussler-Scheinker (GSS) Disease, Prion disease

DIAGNOSTIC TESTING AND CODING

The diagnosis of CJD is suspected when there are typical clinical symptoms such as rapidly progressing dementia with myoclonus (twitching). Currently, there is no single diagnostic test for CJD except for brain biopsy. The first concern is to rule out treatable forms of dementia such as encephalitis or chronic meningitis. The following investigations can be performed to support the diagnosis:

• Electroencephalography - often has characteristic triphasic spikes
• MRI of the brain - often shows high signal intensity in the caudate nucleus and putamen bilaterally on T2-weighted images
• Cerebrospinal fluid analysis for 14-3-3 protein. The presence of this protein supports the diagnosis of CJD, but is not specific
• Tonsil biopsy is helpful in the diagnosis of variant CJD, but less so in other forms of the disease.

Brain biopsy is the definite diagnostic test, but is performed only in selected cases because the procedure may be dangerous to the individual. Since a correct diagnosis of CJD does not help the individual, brain biopsy is discouraged unless it is needed to rule out a treatable disorder.

TREATMENT

There is no treatment that can cure or control CJD. Current treatment is aimed at alleviating symptoms and making the patient as comfortable as possible. Opiate drugs can help relieve pain, and the drugs clonazepam and sodium valproate may help relieve involuntary muscle jerks.

PROGRESSION

About 90 percent of patients die within 1 year. In the early stages of disease, patients may have failing memory, behavioral changes, lack of coordination and visual disturbances. As the illness progresses, mental deterioration becomes pronounced and involuntary movements, blindness, weakness of extremities, and coma may occur.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Clinical notes and results of neurological examination that establish the presence of rapidly progressive dementia or neurodegenerative illness.

If available, ancillary studies, i.e., spinal tap, cerebrospinal fluid analysis, detection of 14-3-3 protein in spinal fluid, electroencephalogram (EEG) and brain biopsy are helpful as supportive evidence.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

11.17 B

Clinical diagnosis of CJD resulting in marked restrictions of activities of daily living and social interactions and

11.17 A

Clinical diagnosis of CJD with significant and persistent disorganization of motor function in two extremities as described in 11.04 B.

Medical Equals

EPENDYMOBLASTOMA (CHILD BRAIN TUMOR)

DESCRIPTION

Ependymoblastoma is a highly malignant brain tumor of childhood and is usually seen in the very young child or infant. It is rare among brain tumors in general, but these brain tumors are the second most common malignancy in the childhood age group, second only to leukemia. Ependymoblastoma is part of a group of tumors classified under the central nervous system (CNS) embryonal tumors group. The symptoms include loss of balance, abnormal speech, general weakness or weakness on one side of the face and double vision. Infratentorial ependymoblastomas (lower back brain) present with signs and symptoms of increased intracranial pressure and cerebellar signs (coordination symptoms). Supratentorial ependymoblastomas (upper brain) are more likely to present with focal headaches and focal motor signs.

ALTERNATE NAMES

Childhood Ependymoma, Ependymal tumors, Neuroectodermal tumors, primitive.

DIAGNOSTIC TESTING AND CODING

The history and physical examination will suggest the diagnosis of a brain tumor and may suggest the area of the brain involved. The examination will reveal a sicker child in the morning hours who then improves as the day progresses. Although a CT of the head may demonstrate calcification that may not be apparent on a MRI should include the entire spine as well as the brain to identify any spread of the tumor that may already be present. Diagnosis rests on positive tests of the tumor.

TREATMENT

Because of the high morbidity associated with whole brain or neuraxis radiation in young children, the therapy for ependymoblastomas is now divided into that for children older than 3 years or 3 years and younger.
Children older than 3 years: Standard treatment of childhood ependymoblastoma is usually surgery followed by radiation therapy to the brain and spinal cord. Sometimes chemotherapy is given at the same time as radiation therapy or after radiation therapy.
Children 3 years or younger: Standard treatment is usually surgery followed by chemotherapy. Other treatments may include surgery followed by high-dose chemotherapy with bone marrow or stem cell transplant and surgery followed by chemotherapy and low-dose of localized radiation therapy.
Treatment of childhood ependymoblastoma in children 3 years old or younger is often within a clinical trial.

PROGRESSION

Prognosis is poor, with a 5 year survival rates ranging from 0% to 30%.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Pathology reports of the tumor. If available, cytology of the CSF.
Additional supporting evidence includes neuroradiological studies including CT or MRI of the brain. If available, neuroradiolocal studies of the entire neuraxis.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

113.13 or 13.13 A 1

Medical Equals

ESOPHAGEAL CANCER

DESCRIPTION

Esophageal cancer originates from the lining of the esophagus and presents as either squamous cell carcinoma (cancer that begins in flat cells lining the esophagus) or adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). Esophageal cancer spreads extensively through the esophagus and often extends far beyond the edges of the primary tumor (distant metastases). The cancer generally presents as an obstruction to swallowing with complaints of difficulty swallowing.

ALTERNATE NAMES

Adenocarcinoma of the Esophagus, Squamous cell carcinoma of the Esophagus

DIAGNOSTIC TESTING AND CODING

The definitive test for esophageal cancer is esophagoscopy with visualization of the cancer and biopsy. Testing used to determine the causes of symptoms include a barium swallow (esophagram) generally done with a series of x-rays of the esophagus, esophagoscopy (also called endoscopy) testing that examines the inside of the esophagus using a thin lighted tube called an endoscope and a biopsy. Testing used to determine whether the cancer has spread includes a CT (CAT) scan of the chest, abdomen and pelvis, a PET scan, a bone scan and a bronchoscopy.

TREATMENT

Historically, treatment of esophageal cancer has been surgery. Recent multimodality therapy with radiation, chemotherapy and surgery has begun to play a major role in treatment.

PROGRESSION

The prognosis for esophageal cancer is not good regardless of the treatment employed. When esophageal cancer is found very early, there is a better chance of recovery. Esophageal cancer is often in an advanced stage when it is diagnosed. At later stages, esophageal cancer can be treated but rarely can be cured.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: A pathology report from biopsy taken during esophagoscopy (also called esophagogastroduodenoscopy or EGD). The report will address the extent to surrounding structures, recurrence and/or metastases to, or beyond, the regional lymph nodes.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

13.16A

Esophageal Cancer meets Listing 13.16A

Medical Equals

FARBER’S DISEASE (FD) – Infantile

DESCRIPTION

Farber's disease (FD) included in a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the joints, tissues, and central nervous system. The liver, heart, and kidneys may also be affected. The disorder is caused by tissue accumulation of the lipid ceramide due to deficient activity of lysosomal ceramidase.
Infantile type 1 and FD type 4: Signs are typically seen in the first few weeks of life and include impaired motor and mental ability and difficulty with swallowing. Other signs may include demonstration/findings of subcutaneous nodules (lumps/masses under the skin), joint limitation, and laryngeal (vocal chord) involvement. The lungs are affected and individuals may require the insertion of breathing tube (tracheostomy). In severe cases, the liver and spleen are enlarged.
The disease occurs when both parents carry and pass on the defective gene that regulates the lipid-protein sphingomyelin. Children born to these parents have a 25 percent chance of inheriting the disorder and a 50 percent chance of carrying the faulty gene. The disorder affects both males and females.

ALTERNATE NAMES

Acid Ceramidase Deficiency, Disseminated Lipogranulomatosis, Farbers Syndrome

DIAGNOSTIC TESTING AND CODING

Diagnosis is confirmed by laboratory findings of acid ceramidase activity, which is less than 6 percent of control values, measured in cultured skin fibroblasts (connective tissue cells), white blood cells or amniocytes. Another diagnostic approach is the clinical findings (evidence) on biopsy, showing granulomas with macrophages containing lipid cytoplasmic inclusions in subcutaneous nodules (masses or lumps under the skin) or other tissues. Laboratory confirmation of ceramide accumulation in tissues by chromatography or mass spectrometry is also an established diagnostic test for FD.

TREATMENT

Currently there is no specific treatment for FD. Corticosteroids can help relieve pain. Nodes can be treated with bone marrow transplants, in certain instances, or may be surgically reduced or removed. There is no treatment for the progressive neurologic and developmental impairments.

PROGRESSION

Limited neurodevelopment in the first year of life. Most children with Infantile FD type 1 and FD type 4 die by age 2, usually from lung disease.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Results of acid ceramidase enzyme activity measured in cultured skin fibroblasts, white cells or amniocytes.
Other confirmatory lab tests for FD include reports that address typical histopathology features on biopsy and evidence of ceramide accumulation by chromatography of mass spectrometry.
Clinical description of the physical and developmental findings support the diagnosis.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

103.02 D

Tracheostomy in a child under 3 years

110.08 B

FD type 1 or 4 with laboratory confirmation of the diagnosis. The listing requires developmental findings consistent with FD type 1 or type 4 and confirmation of the diagnosis by results of acceptable laboratory test(s)

111.06 A and B

Clinical diagnosis of FD with motor dysfunction as described in 111.06 A or B.

Medical Equals

114.09 A or B or D

Diagnosis of FD with findings described in the listing.

FRIEDREICH'S ATAXIA (FRDA)

DESCRIPTION

Friedreich's Ataxia (FRDA) is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from muscle weakness and speech problems to heart disease. Ataxia results from the degeneration of nerve tissue in the spinal cord and of nerves that control muscle movement in the arms and legs. Symptoms usually begin between the ages of 5 and 15 but can appear as early as 18 months or as late as 30 years of age. The first symptom is usually difficulty in walking. The ataxia gradually worsens and slowly spreads to the arms and then the trunk. Foot deformities such as clubfoot, flexion (involuntary bending) of the toes, hammer toes, or foot inversion (turning in) may be early signs. Rapid, rhythmic, involuntary movements of the eyeball are common. Most people with FRDA develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing. Other symptoms include chest pain, shortness of breath, and heart palpitations.

ALTERNATE NAMES

Friedreich's Disease, Friedreich's Tabes, Hereditary Ataxia-Friedreich's type, Hereditofamilial Spinal Ataxia

DIAGNOSTIC TESTING AND CODING

Diagnosis of FRDA includes clinical examination, which includes a medical history and a thorough physical examination. Several tests may be helpful, including nerve conduction studies, electromyogram (EMG), electrocardiogram, MRI, blood tests and urinalysis, and holter monitor. Genetic testing can confirm the chromosomal abnormality that causes this disease. Evidence of positive gene testing and gait ataxia is necessary to determine the underlying gene abnormality that results in this disease to confirm the diagnosis of FRDA.

TREATMENT

There is currently no effective cure or treatment for FRDA. However, many of the symptoms and accompanying complications can be treated to help patients maintain optimal functioning as long as possible. Diabetes and heart problems can be treated with medications. Orthopedic problems such as foot deformities and scoliosis can be treated with braces or surgery. Physical therapy may prolong use of the arms and legs.

PROGRESSION

The FRDA gene is present at birth. Generally, within 15 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease, individuals become completely incapacitated. Most people with FRDA die in early adulthood if there is significant heart disease, the most common cause of death. Some people with less severe symptoms live much longer.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Genetic testing for the FRDA gene, clinical evaluation with history and complete neurological examination.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

11.17 A

FRDA with disorganization of motor function as described in 11.04B

111.06 A or B

FRDA with motor dysfunction as described in this listing.

Medical Equals

FRONTOTEMPORAL DEMENTIA (FTD), PICK'S DISEASE -Type A - Adult

DESCRIPTION

Frontotemporal Dementia (FTD) describes a clinical syndrome associated with shrinking of the frontal and temporal anterior lobes of the brain. Originally known as Pick's disease, the name and classification of FTD has been a topic of discussion for over a century. The current designation of the syndrome groups together Pick's disease, primary progressive aphasia, and semantic dementia as FTD. The presence of abnormalities in the nerve cells of the brain, called Pick bodies, distinguishes frontal lobe dementia from other types of dementia. As it is defined today, the symptoms of FTD fall into two clinical patterns that involve either (1) changes in behavior, or (2) problems with language. The first type features behavior that can be either impulsive (disinhibited) or bored and listless (apathetic). It also includes inappropriate social behavior; lack of social tact; lack of empathy; distractibility; loss of insight into the behaviors of oneself and others; an increased interest in sex; changes in food preferences; agitation or, conversely, blunted emotions; neglect of personal hygiene; repetitive or compulsive behavior, and decreased energy and motivation. The second type primarily features symptoms of language disturbance, including difficulty making or understanding speech, often in conjunction with the behavioral type's symptoms. Spatial skills and memory remain intact. There is a strong genetic component to the disease; FTD often runs in families.

ALTERNATE NAMES

Frontotemporal Lobar Degeneration, Dementia with Lobar Atrophy and Neuronal Cytoplasmic Inclusions, Diffuse Degenerative Cerebral Disease, Lobar Atrophy of the brain, Pick Disease of the brain-Type 1, Wilhelmsen-Lynch Disease

DIAGNOSTIC TESTING AND CODING

Diagnostic tests may include:

• physical exam, clinical assessment and blood tests,
• neurological exam that checks awareness and responsiveness, vital signs, reflexes, sensory responses and coordination,
• neuropsychological testing, which assesses memory, ability to reason and judge, problem-solving skills and language skills.
  Brain imagining, such as MRI and CT, may demonstrate shrinkage of the frontal and temporal lobes and also help exclude other causes of dementia such as strokes and brain tumors. PET and SPEC tomography testing may be used to evaluate brain activity.

TREATMENT

No treatment has been shown to slow the progression of FTD. Behavior modification may help control unacceptable or dangerous behaviors. Aggressive, agitated, or dangerous behaviors could require medication. Anti-depressants and tranquilizers have been shown to improve some symptoms.

PROGRESSION

The outcome for individuals with FTD is poor. The disease progresses steadily and often rapidly, ranging from less than 2 years in some individuals to more than 10 years in others. Eventually some individuals with FTD will need 24-hour care and monitoring at home or in an institutionalized care setting.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Brain imagining, such as MRI and CT, may demonstrate shrinkage of the frontal and temporal lobes and also help exclude other causes of dementia such as strokes and brain tumors. PET and SPEC tomography testing may be used to evaluate brain activity. Clinical evidence describing general physical and blood tests to rule out thyroid disease, vitamin B12 deficiency and syphilis may be considered. Consideration of family history is appropriate as there is often a strong family predisposition for FTD. Documentation of a clinically appropriate medical history, neurological findings consistent with the diagnosis of FTD, and the results of any electrophysiological and neuroimaging testing may be considered.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

12.02

Clinical diagnosis of dementia based on the loss of specific cognitive abilities or development of behavioral changes resulting in marked restrictions of activities of daily living and social interactions and specific cognitive/behavioral deficits including:

1. Memory impairment, either of short- or long-term memory
2. Language impairment: aphasia
3. Disorientation to time or place
4. Changes in personality: disinhibition, lack of impulse control.
5. Changes in mood, emotional lability (e.g., temper outbursts, sudden crying)

Medical Equals

11.04

Aphasia

GALLBLADDER CANCER

DESCRIPTION

Gallbladder Cancers includes cancers that are formed in tissues of the gallbladder and the bile ducts in the liver (biliary system). Gallbladder cancer is a disease in which malignant (cancer) cells form in the tissues of the gallbladder. It begins in the innermost layer of tissue and spreads through the outer layers as it grows. Bile duct cancer is a cancer that forms in a bile duct. Bile duct cancer may be found inside the liver (intrahepatic) or outside the liver (extrahepatic). Klatskin tumor is a type of cholangiocarcinoma that develops where the right and left bile ducts meet. Risk factors for gallbladder cancer are greatest for females and Native Americans. Symptoms may include jaundice; pain above the stomach; fever, nausea and vomiting; bloating; and lumps in the abdomen.

ALTERNATE NAMES

Cholangiocarcinoma, Klatskin tumor, Biliary Duct cancer

DIAGNOSTIC TESTING AND CODING

Gallbladder cancer is difficult to detect (find) and diagnose early because there aren't any noticeable signs or symptoms in the early stages of the disease and the symptoms of gallbladder cancer, when present, are like the symptoms of many other illnesses. Gallbladder cancer is sometimes found when the gallbladder is removed for other reasons. Individuals with gallstones rarely develop gallbladder cancer. Tests that examine the gallbladder and nearby organs are used to detect, diagnose, and stage gallbladder cancer. The following tests and procedures may be used: physical exam and history to check for lumps; ultrasound exam; liver function tests that measure the amounts of substances released into the blood by the liver; Carcinoembryonic antigen (CEA) assay; CA 19-9 assay to measures the level of CA 19-9 in the blood; CT scan; blood chemistry studies to measure the amounts of substances released into the blood by organs and tissues in the body; chest x-ray; MRI; MRA; PTC; endoscopy; and biopsy and laparoscopy to remove the tumor.

TREATMENT

Cholangiocarcinoma and gallbladder cancer can be cured only if it is found before it has spread and it can be removed by surgery. Bile duct cancer (tumor) cannot be completely removed by surgery and is incurable. If the cancer has spread, palliative treatment can improve the patient's quality of life by controlling the symptoms and complications of this disease.

PROGRESSION

Cholangiocarcinoma generally causes progressive liver failure. Gallbladder cancer can invade the liver or it can disseminate into lymph nodes or can spread as intra-peritoneal metastases.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

13.19

Cholangiocarcinoma and gallbladder cancer meet Listing 13.19

Medical Equals

GAUCHER DISEASE (GD) - Type 2

DESCRIPTION

Gaucher disease (GD) is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and sometimes in the brain. In GD Type 2, liver and spleen enlargement are apparent by 3 months of age. Children have extensive and progressive brain damage and usually die by 2 years of age. All GD individuals exhibit a deficiency of an enzyme called glucocerebrosidase that is involved in the breakdown and recycling of glucocerebroside. The buildup of this fatty material within cells prevents the cells and organs from functioning properly. GD is one of several lipid storage diseases.

ALTERNATE NAMES

Gaucher disease-Type 2; GD2; Gaucher disease, infantile cerebral; Gaucher disease, acute neuronopathic type; Gaucher's disease type 2; Gaucher's disease type 2; Gaucher syndrome type 2

DIAGNOSTIC TESTING AND CODING

The diagnosis of GD relies on demonstration of deficient glucosylceramidase enzyme activity in peripheral blood leukocytes or other nucleated cells. Identification of two disease-causing alleles in GBA, the only gene known to be associated with GD, provides additional confirmation of the diagnosis but not in lieu of biochemical testing. Molecular genetic testing using sequence analysis identifies mutations in the majority of affected individuals.

TREATMENT

There is no effective treatment for the severe brain damage that may occur in children with GD Type 2.

PROGRESSION

The prognosis for children with GD Type 2 with onset before age two years is limited psychomotor development and a rapidly progressive course with death by age two to four years.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Enzyme assay level of glucosylceramidase (glucocerebrosidase) activity of less than 15%, physical findings of hepatosplenomegaly, and evidence of progressive neurodevelopmental delay.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

110.08B

Catastrophic congenital abnormalities or disease.

Medical Equals

GLIOBLASTOMA MULTIFORME (ADULT BRAIN TUMOR)

DESCRIPTION

Glioblastoma Multiforme is a fast-growing type of central nervous system tumor that forms from glial (supportive) tissue of the brain and spinal cord and has cells that look very different from normal cells. Glioblastoma multiforme or grade IV astrocytoma is the most malignant of the primary brain tumors. GBM is composed of glial (supportive) brain cells that, having lost their control mechanisms, grow, divide and spread aggressively throughout the brain tissue. In consequence, these tumors are difficult to treat and often recur after initial therapy. Glioblastoma multiforme most often occurs in adults between the ages of 45 and 70 years and affects the brain more often than the spinal cord. The symptoms of glioblastoma multiforme may include: frequent headaches, vomiting, loss of appetite, changes in mood and personality, changes in ability to think and learn and seizures.

ALTERNATE NAMES

Grades III and IV Astrocytoma, malignant glioma, anaplastic glioma, brain cancer, adult brain tumor, GBM

DIAGNOSTIC TESTING AND CODING

Diagnosis is based on patient history, neurological examination and diagnostic procedures. The only definitive test that can provide a diagnosis of glioblastoma multiforme is a biopsy of the tumor.

Testing to confirm diagnosis of glioblastoma multiforme includes neuroimaging (CT and MRI) to provide information about the location, size and shape of the tumor.

TREATMENT

Treatment of glioblastoma multiforme may include the following: surgery, radiation and/or chemotherapy.

PROGRESSION

Glioblastoma multiforme is highly aggressive, infiltrating, and responds poorly to all currently available treatments. The prognosis is grim as most patients die within 2 years and few survive longer than three years.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested Listings for Evaluation: Pathology report of the tumor biopsy or surgical specimen is the critical information necessary for disability evaluation.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

13.13 A 1

Medical Equals

HEAD AND NECK CANCERS

DESCRIPTION

Head and Neck Carcinoma includes those cancers that arise in the head or neck region (e.g., nasal cavity, sinuses, lips, mouth, tongue, throat, or larynx [voice box]).

ALTERNATE NAMES

Squamous Cell Carcinoma of the nasal cavity, sinuses, lips, mouth, nose, tonsils, tongue, throat, or larynx (voice box); Adenocarcinoma of the nasal cavity, sinuses, lips, mouth, nose, tonsils, tongue, throat, or larynx (voice box); Squamous Cell Cancer of the nasal cavity, sinuses, lips, mouth, nose, tonsils, tongue, throat, or larynx (voice box); Metastatic Squamous Cell Neck Cancer; Metastatic Squamous Cell Neck Carcinoma; Head and Neck Carcinomas.

DIAGNOSTIC TESTING AND CODING

The following may be used to diagnose the disease: physical exam and history, endoscopy, laboratory tests including blood and urine analysis, x-rays, CT scan, biopsy, MRI, and/or PET scan.

TREATMENT

Treatment may include surgery, radiation, and/or chemotherapy. These treatments may affect eating, speaking, or even breathing.

PROGRESSION

When cancer of any of the sites is advanced, the prognosis is very poor.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: A pathology report and an operative report are the preferred methods for documentation.
In the absence of these reports, the adjudicator may use a physician's opinion that indicates the cancer is inoperable or unresectable based on described objective findings.
“Inoperable” refers to a physician's opinion that surgery would not be beneficial based on a review of imaging studies, laboratory results, and physical examination findings. Unresectable cancer is established when the operative report indicates that the cancer is not completely removed or the pathology report notes that the surgical specimen has positive margins.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

13.02 A or D

Head and Neck Carcinoma that is inoperable, unresectable, or with distant metastasis meets Listing 13.02 A or D.

Medical Equals

INFANTILE NEUROAXONAL DYSTROPHY (INAD)

DESCRIPTION

Infantile Neuroaxonal Dystrophy (INAD) is a rare, inherited neurological disorder. It affects axons, the part of a nerve cell that carries messages from the brain to other parts of the body, and causes progressive loss of vision, muscular control, and mental skills. While the basic genetic and metabolic causes are unknown, INAD is the result of an abnormal build-up of toxic substances in nerves that communicate with muscles, skin, and the conjunctive tissue around the eyes. Symptoms usually begin within the first 2 years of life, with the loss of head control and ability to sit, crawl, or walk, accompanied by deterioration in vision and speech. Some children may have seizures. Distinctive facial deformities may be present at birth, including a prominent forehead, crossed eyes, an unusually small nose or jaw, and large, low-set ears. INAD is an autosomal recessive disorder, which means that both parents must be carriers of the defective gene that causes INAD to pass it on to their child.

ALTERNATE NAMES

Prenatal or Connatal Neuroaxonal Dystrophy, Seitelberger Disease

DIAGNOSTIC TESTING AND CODING

Tissue diagnosis and onset of symptoms in the first 2 years of age.
Electrophysiology (nerve conduction velocities) may be helpful for diagnosis, although diagnosis is usually confirmed by tissue biopsy of skin, rectum, nerve or conjunctive tissue to confirm the presence of characteristic swellings (spheroid bodies) in the nerve axons.

TREATMENT

There is no cure for INAD and no treatment that can stop the progress of the disease. Treatment is symptomatic and supportive. Doctors can prescribe medications for pain relief and sedation. Physiotherapists and other physical therapists can teach parents and caregivers how to position and seat their child, and to exercise arms and legs to maintain comfort.

PROGRESSION

INAD is a progressive disease. Once symptoms begin, they will worsen over time. Generally, a baby's development starts to slow down between the ages of 6 months to 3 years. The first symptoms may be slowing of motor and mental development followed by loss or regression of previously acquired skills. Rapid, wobbly eye movements and squints may be the first symptoms, followed by floppiness in the body and legs (more than in the arms). For the first few years, a baby with INAD will be alert and responsive, despite being increasingly physically impaired. Eventually, because of deterioration in vision, speech, and mental skills, the child will lose touch with its surroundings. Death usually occurs between the ages of 5 to 10 years.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Molecular genetic testing for PLA2G6 gene and description of associated clinical findings (e.g., progressive psychomotor regression, optic atrophy, hypotonia).

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

110.08B

INAD confirmed by molecular genetic testing

111.06 A or B

INAD established by clinical diagnosis with motor dysfunction as described in Listing 111.06 A or B.

Medical Equals

INFLAMMATORY BREAST CANCER

DESCRIPTION

Inflammatory Breast Cancer (IBC) is a type of breast cancer in which the breast looks red and swollen and feels warm. The skin of the breast may also show the pitted appearance called peau d'orange (like the skin of an orange). The redness and warmth occur because the cancer cells block the lymph vessels in the skin. IBC accounts for 1 to 5 percent of all breast cancer cases in the United States. It tends to be diagnosed in younger women compared to non-IBC breast cancer. It occurs more frequently and at a younger age in the African American population than in the White population. Like other types of breast cancer, IBC can occur in men, but usually at an older age than in women. Symptoms of IBC may include redness, swelling, and warmth in the breast, often without a distinct lump in the breast. Symptoms include heaviness, burning, aching, increase in breast size, tenderness, or a nipple that is inverted (facing inward). These symptoms usually develop quickly-over a period of weeks or months. Swollen lymph nodes may also be present under the arm, above the collarbone, or in both places. However, it is important to note that these symptoms may also be signs of other conditions such as infection, injury, or other types of cancer.

ALTERNATE NAMES

Inflammatory Breast Carcinoma, IBC, Locally Advanced Breast Cancer

DIAGNOSTIC TESTING AND CODING

Diagnosis of IBC is based primarily on the results of a doctor's clinical examination. Biopsy, mammogram, and breast ultrasound are used to confirm the diagnosis.

TREATMENT

Treatment for IBC consists of chemotherapy, targeted therapy, surgery, radiation therapy, and hormonal therapy. Individuals may also receive supportive care to help manage the side effects of the cancer and its treatment. Chemotherapy (anticancer drugs) is generally the first treatment for individuals with IBC, and when given prior to surgery is called neoadjuvant therapy. The use of this neoadjuvant treatment has dramatically improved response rate, although long-term overall survival is still worse as compared with other forms of breast cancer. After chemotherapy, individuals may undergo surgery and radiation therapy to the chest wall. Both radiation and surgery are local treatments that affect only cells in the tumor and the immediately surrounding area. After initial systemic and local treatment, patients with IBC may receive additional systemic treatments to reduce the risk of recurrence (cancer coming back).

PROGRESSION

IBC is more likely to have metastasized (spread to other areas of the body) at the time of diagnosis than non-IBC cases. As a result of this and the general aggressive nature of the disease, the 5-year survival rate for patients with IBC is between 25 and 50 percent, which is significantly lower than the survival rate for patients with non-IBC breast cancer.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Clinical documentation of the characteristic changes of the skin as described above and a pathology report with a diagnosis of malignancy.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

13.10A

Inflammatory Breast Cancer currently meets Listing 13.10A

Medical Equals

KIDNEY CANCER

DESCRIPTION

Kidney Cancer is cancer that forms in tissues of the kidneys. Kidney cancer develops most often in people over 40, but no one knows the exact causes of this disease. Smoking and misuse of certain pain medicines including over-the-counter pain medicines for a long time can affect the risk of developing renal cell cancer. Also, certain genetic conditions, such as von Hippel-Lindau disease or hereditary papillary renal cell carcinoma put a person at risk for this disease. Clear Cell Sarcoma of the Kidney is a rare type of kidney cancer, in which the inside of the cells look clear when viewed under a microscope. Clear cell sarcoma can spread from the kidney to other organs, most commonly the bone, but also including the lungs, brain, and soft tissues of the body.
There may be no symptoms of kidney cancer in the early stages. Symptoms may appear as the tumor grows. The following symptoms may be caused by kidney cancer: blood in the urine, a lump in the abdomen, a pain in the side that doesn't go away, loss of appetite, weight loss for no known reason, and anemia.

ALTERNATE NAMES

Kidney Carcinoma, Renal Cell Cancer (RCC), Renal Cell Carcinoma, Wilms Tumor, Renal Pelvis Carcinoma, Renal Adenocarcinoma, Clear Cell Sarcoma of the Kidney, Rhabdoid Tumor of the Kidney, Neuroepithelial Tumor of the Kidney, Diffuse Hyperplastic Perilobar Nephroblastomatosis

DIAGNOSTIC TESTING AND CODING

Diagnostic testing may include: physical exam and history, blood chemistry studies, urinalysis, liver function tests, Intravenous pyelogram (IVP), ultrasound exam, CT scan, MRI and biopsy.
There is no specific diagnostic testing that permits a tumor to be designated inoperable or unresectable. Inoperable is a physician opinion, made by a qualified physician, after reviewing sufficient imaging studies and laboratory values and physical examination findings to permit the physician to confidently reach the opinion that surgery would be useless. Unresectable is a designation indicating that surgery was attempted but the cancer was incompletely removed. Documentation of unresectable cancer will be found in the surgeon's operative report, in which the surgeon will state that the cancer was not completely removed, or in the pathology report, in which the surgical specimen will be noted to have a positive margin (cancer involvement at the cut surgical margin).

TREATMENT

Standard treatment for kidney carcinoma includes: surgery to remove part or all of the kidney), radiation therapy, chemotherapy, biologic therapy, and targeted therapy. Targeted therapy uses drugs or other substances that can find and attack specific cancer cells without harming normal cells. Antiangiogenic agents are a type of targeted therapy that may be used to treat advanced kidney carcinoma. They keep blood vessels from forming in a tumor, causing the tumor to starve and stop growing or to shrink.

PROGRESSION

An individual can live with part of one working kidney, but if both kidneys are removed or not working, the person will need dialysis (a procedure to clean the blood using a machine outside of the body) or a kidney transplant (replacement with a healthy donated kidney). A kidney transplant may be done when the disease is in the kidney only and a donated kidney can be found.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Clinical note from a surgeon that the cancer is inoperable. Surgical pathology report that the cancer was not completely removed and that the surgical margins were positive for malignancy.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

13.21 A

Biopsy proof of Kidney Cancer and clinical note stating tumor is inoperable or pathology report or operative note indicating tumor was unresectable.

Medical Equals

KRABBE DISEASE (KD) - Infantile

DESCRIPTION

Krabbe disease is a rare, inherited degenerative disorder of the central and peripheral nervous systems. Krabbe disease is one of a group of genetic disorders called the leukodystrophies. These disorders impair the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers, and cause severe degeneration of mental and motor skills. Myelin, which lends it color to the “white matter” of the brain, is a complex substance made up of at least 10 different enzymes. Each of the leukodystrophies affects one (and only one) of these substances. Krabbe disease is a lysomal storage disease caused by a deficiency of galactocerebrosidase (GALC), an essential enzyme for myelin metabolism.
Infantile form: This is the most common type and onset is almost always before 6 months of age and even during the first week of life.

• Initial symptoms include restlessness, intermittent fever, irritability and progressive stiffness (irritable-hypertonic presentation). Symptoms may develop acutely. Fever without infection is common. Convulsion may be part of the symptoms. There are also increased muscle tone and pyramidal signs. Deep tendon reflexes are often absent or weak due to peripheral neuropathy.
• The second phase is characterized by rapid deterioration in motor function, with chronic opisthotonos and myoclonic jerking, accompanied by hyperpyrexia, hypersalivation, and hypersecretion from the lungs. Rapid and severe motor and mental deterioration follows. In all cases, a high CSF protein is found and nerve conduction velocities are considerably reduced.
• A final “burnt out” stage occurs eventually. The infant becomes decerebrate and has no contact with the surroundings. The baby usually dies within the first one or two years of life, most commonly due to infection and/or bulbar palsy.

ALTERNATE NAMES

Beta Galactocerebrosidase (GALC) Deficiency, Galactosylceramide Deficiency, Galactosylceramide Lipidosis, Globoid Cell Leukodystrophy (GLD), Krabbe Leukodystrophy, Sphingolipidoses, Krabbe type

DIAGNOSTIC TESTING AND CODING

Before birth, a fetus can be screened for Krabbe disease. Using a needle, the doctor can withdraw amniotic fluid surrounding the fetus, and then the cells in this fluid can be examined in the lab. This requires obtaining fetal cells by chorionic villus sampling or culturing amniotic fluid cells obtained by amniocentesis. After birth, a physical exam of the child, evaluating signs and symptoms and diagnostic testing including: blood, skin (biopsy) samples, lumbar puncture (spinal tap), MRI and CT scans, nerve conduction studies, eye exam, and genetic testing may be done to confirm the diagnosis.

TREATMENT

There is no specific, proven treatment for advanced, symptomatic Krabbe disease. Treatment at this stage is designed primarily to ease symptoms. For example, anticonvulsant medications may be used to manage the seizures associated with this disease. Other drugs may reduce the risk of vomiting. Some research indicates possible benefits associated with the use of bone marrow transplantation or cord blood transfusion as treatments for Krabbe disease. For pre symptomatic infants and older individuals with mild symptoms, hematopoietic stem cell transplantation (HSCT) with cord blood provides a benefit over symptomatic treatment only.

PROGRESSION

Infantile Krabbe disease is generally fatal before age 2. Prognosis may be significantly better for children who receive umbilical cord blood stem cells prior to disease onset or early bone marrow transplantation.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Documentation should include genetic testing of GALC gene (targeted mutation or sequence analysis), or enzyme assay for GALC enzyme activity, MRI or CAT scan with characteristic white matter abnormalities and a description of motor findings (limb stiffness, spasticity, ataxia, progressive psychomotor decline).

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

110.08 A

Krabbe disease - infantile form confirmed by genetic testing or enzyme assay.

111.06 A or B

Krabbe disease with motor dysfunction as described in 111.06 A or B

111.17 A

Krabbe disease with disorganization as described in 111.04 B

Medical Equals

LARGE INTESTINE CANCER

DESCRIPTION

Large Intestine Cancer forms in the tissues of the colon. Most colon cancers are adenocarcinomas. When large intestine adenocarcinoma spreads outside the colon or rectum, cancer cells are often found in nearby lymph nodes. If cancer cells have reached these nodes, they may also have spread to other lymph nodes or other organs. Large intestine adenocarcinoma (cancer) cells most often spread to the liver.
Large intestine adenocarcinoma (cancer) is more likely to occur as people age. More than 90% of people with this disease are diagnosed after age 50 and the average age at diagnosis is 72.

ALTERNATE NAMES

Colon Cancer, Colon Carcinoma, Colorectal Cancer, Colorectal Carcinoma, Rectal Cancer, Rectal Carcinoma, Large Bowel Cancer, Large Bowel Carcinoma, Large Intestine Adenocarinoma

DIAGNOSTIC TESTING AND CODING

The following may be used to diagnose the disease: fecal occult blood test (FOBT), sigmoidoscopy, colonoscopy, double-contrast barium enema, and/or digital rectal exam.
The following tests and procedures may be used to determine if the Large intestine adenocarcinoma has spread: CT scan, lymph node biopsy, complete blood count, carcinoembryonic antigen (CEA) assay, MRI, and/or surgery.

TREATMENT

If the cancer is inoperable or unresectable, treatment with radiation or chemotherapy can be utilized for palliation, but the prognosis is poor.

PROGRESSION

Large intestine adenocarcinoma (colon cancer) is the second leading cause of death from cancer in the United States. Inoperable or unresectable large intestine adenocarcinoma may progress locally and cause intestinal obstruction, uncontrolled GI bleeding, and/or severe pain from invasion into the sacral nerve plexus.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: A pathology report and an operative report are the preferred methods for documentation.
In the absence of these reports, the adjudicator may use a physician's opinion that indicates the cancer is inoperable or unresectable based on described objective findings.
“Inoperable” refers to a physician's opinion that surgery would not be beneficial based on a review of imaging studies, laboratory results, and physical examination findings. Unresectable cancer is established when the operative report indicates that the cancer is not completely removed or the pathology report notes that the surgical specimen has positive margins.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

13.18A, 13.18B, and 13.18C

Large Intestine Cancer that is inoperable, unresectable, recurrent, or with distant metastases meets Listing 13.18A, 13.18B, and 13.18C.

Medical Equals

LESCH-NYHAN SYNDROME (LNS)

DESCRIPTION

Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). LNS is an X-linked recessive disease-- the gene is carried by the mother and passed on to her son. LNS is present at birth in baby boys (females are carriers of the gene). The lack of HPRT causes a build-up of uric acid in all body fluids, and leads to severe gout, poor muscle control, and moderate retardation, which appear in the first year of life. Hypotonia and delayed motor milestones are usually evident by three to six months of age. The motor disability is so severe that virtually all children with LNS never walk and are confined to a wheelchair. Neurological signs include facial grimacing, involuntary writhing, and repetitive movements of the arms and legs similar to those seen in Huntington's disease. A striking feature of LNS is self-mutilating behaviors - characterized by lip and finger biting - that begin in the second year of life. Because a lack of HPRT causes the body to poorly utilize vitamin B12, some boys may develop a rare disorder called megaloblastic anemia.

ALTERNATE NAMES

Hereditary Hyperuricemia and Choreoathetosis Syndrome, Hyperuricemia Choreoathetosis-Self mutilation Syndrome, Hyperuricemia-Oligophrenia, Hypoxanthine-Guanine Phosphoribosyltranferase Deficiency (HGPRT), Hypoxanthine phosphoribosyltransferase Deficiency (HPRT), Juvenile Gout-Choreoathetosis and Mental Retardation Syndrome, Lesch Nyhan Disease, Nylan Syndrome

DIAGNOSTIC TESTING AND CODING

Molecular genetic testing is the most effective method of testing, as HPRT1 is the only gene known to be associated with LNS. Individuals who display the full Lesch-Nyhan phenotype all have mutations in the HPRT1 gene. Some consider the definitive confirmatory test to be the results of HPRT enzyme activity of less than 1.5% of normal blood or other type tissue cells.

TREATMENT

Treatment for LNS is symptomatic. Gout can be treated with allopurinol to control excessive amounts of uric acid. Kidney stones may be treated with lithotripsy, a technique for breaking up kidney stones using shock waves or laser beams. There is no standard treatment for the neurological symptoms of LNS. Some may be relieved with the drugs carbidopa/levodopa, diazepam, phenobarbital, or haloperidol.

PROGRESSION

The prognosis for individuals with LNS is poor. Death usually occurs in the first or second decade of life.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: LNS is diagnosed by HPRT enzyme activity less than 1.5% of normal in tissue cells or genetic test results showing mutation in the HPRT1 gene and clinical description of the physical and developmental findings consistent with LNS.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

110.08B

Laboratory confirmed diagnosis of LNS that interferes very seriously with development.

111.06A and B

Clinical diagnosis of LNS with motor dysfunction as described in 111.06A or B.

Medical Equals

LIVER CANCER

DESCRIPTION

One of the most common types of liver cancer is Hepatocellular Carcinoma. Hepatocellular Carcinoma is a type of adenocarcinoma. Hepatocellular carcinoma is cancer that forms in the tissues of the liver. Secondary liver cancer is cancer that spreads to the liver from another part of the body. The following are possible risk factors for hepatocellular carcinoma: having hepatitis B and/or hepatitis C; having a close relative with both hepatitis and liver cancer; having cirrhosis; and eating foods tainted with aflatoxin (poison from a fungus that can grow on foods, such as grains and nuts that have not been stored properly). Hepatocellular carcinoma is sometimes called a “silent disease” because in an early stage it often does not cause symptoms. But, as the cancer grows, symptoms may include: pain in the upper abdomen on the right side; the pain may extend to the back and shoulder; swollen abdomen (bloating); weight loss; loss of appetite and feelings of fullness; weakness or feeling very tired; nausea and vomiting; yellow skin and eyes, and dark urine from jaundice; and fever.

ALTERNATE NAMES

Hepatocellular (Liver) cancer, Intrahepatic Bile Duct Cancer, Liver Cancer, Hepatocellular Carcinoma

DIAGNOSTIC TESTING AND CODING

Diagnosis of hepatocellular carcinoma includes a clinical examination, which includes a medical history and a thorough physical examination. Many blood tests may be used to check for liver problems. For example, one blood test detects alpha-fetoprotein (AFP). High AFP levels could be a sign of liver cancer. Several tests may be performed including CT scan, Ultrasound test, MRI, Angiogram, and Biopsy.

TREATMENT

Hepatocellular carcinoma can be cured only when it is found at an early stage (before it has spread) and only if the patient is healthy enough to have surgery. However, treatments other than surgery may be able to control the disease and help patients live longer and feel better. The choice of treatment depends on the condition of the liver; the number, size, and location of tumors; and whether the cancer has spread outside the liver. Options include radiation therapy, chemotherapy, percutaneous ethanol injections, and hepatic arterial infusions. For a few patients, liver transplantation may be an option.

PROGRESSION

Hepatocellular carcinoma is rarely discovered early and often does not respond to current treatments-thus, the prognosis is often poor. For patients with advanced disease, care is focused on keeping the patient as comfortable as possible. Palliative therapy aims to improve the quality of a person's life by controlling pain and other problems caused by the disease.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Either (1) A pathology report stating that hepatocellular carcinoma is present in a biopsy specimen, or (2) MRI or CT scan showing liver abnormalities compatible with hepatocellular carcinoma along with elevated alpha-feto-protein meeting the requirements under the diagnostic testing above.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

13.19

Hepatocellular Carcinoma meets Listing 13.19

Medical Equals

MANTLE CELL LYMPHOMA (MCL)

DESCRIPTION

Mantle Cell Lymphoma (MCL) is an aggressive (fast-growing) type of B-cell non-Hodgkin's lymphoma. Non-Hodgkin's lymphomas are related malignancies (cancers) that affect the lymphatic system (lymphomas). It is marked by small- to medium-size cancer cells that may be in the lymph nodes, spleen, bone marrow, blood, and gastrointestinal system. MCL is a B-cell lymphoma that develops from malignant B-lymphocytes within a region of the lymph node known as the “mantle zone.” MCL results from errors in the production of a lymphocyte or transformation of a lymphocyte into a malignant cell. Abnormal, uncontrolled growth and multiplication (proliferation) of malignant lymphocytes may lead to enlargement of a specific lymph node region or regions; involvement of other lymphatic tissues, such as the spleen and bone marrow; and spread to other bodily tissues and organs, potentially resulting in life-threatening complications. The specific symptoms and physical findings may vary from case to case, depending upon the extent and region(s) of involvement and other factors. MCL primarily affects men over the age of 50 years. Many affected individuals have widespread disease at diagnosis, with involved regions often including multiple lymph nodes, the spleen, and, potentially, the bone marrow, the liver, and/or regions of the digestive (gastrointestinal) tract.

ALTERNATE NAMES

B-cell lymphoma, Non-Hodgkin's Lymphoma

DIAGNOSTIC TESTING AND CODING

MCL diagnosis is obtained by pathologic review of a lymph node biopsy and/or bone marrow specimen. This usually includes flow cytometry testing and chromosomal analysis which show CD5-positive cells, cyclin D1 protein overexpression, and translocation of chromosomes 11 and 14.

TREATMENT

The treatment is chemotherapy but the exact regimen of drugs may vary. Refractoriness to chemotherapy is usual and unfortunately, high-dose stem cell transplants have not shown an overall survival benefit.

PROGRESSION

Classical MCL is characterized by an extremely poor prognosis. This cancer has the shortest average survival of all lymphoma types. Long-time survivors are rare, only very few patients with an overall survival over 10 years have been reported.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: The diagnosis of mantle cell lymphoma is based on the pathology report from a lymph node or bone marrow specimen.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

Medical Equals

13.06 A

Mantle Cell Lymphoma equals Listing 13.06 A as it requires aggressive treatment and has a poor prognosis

METACHROMATIC LEUKODYSTROPHY (MLD) - Late Infantile

DESCRIPTION

Metachromatic leukodystrophy (MLD) is a hereditary degenerative disease transmitted as an autosomal recessive, due to sulfatase A deficiency, with excess accumulation of sulfated lipids responsible for metachromasia in various tissues. MLD impairs the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers.
Late infantile form, which is the most common MLD, usually begins in the second year of life (ranges 1-3 years). After normal early development, the infant displays irritability and an unstable walk. Developmental milestones, such as language development, are not met, and muscle wasting eventually gives way to spastic movements, then profound weakness. Seizures usually occur, followed by paralysis and dementia. Children may become comatose.

ALTERNATE NAMES

Arylsulfatase A Deficiency (ARSA), Cerebroside Sulfatase Deficiency, Metachromatic Form of Diffuse Cerebral Sclerosis, Metachromatic Leukoencephalopathy, Scholz-Bielchowsky-Henneberg Diffuse Cerebral Sclerosis, Scholz-Greenfield Disease, Sulphatide Lipidosis, Sulphatidosis, Van Bogaert-Nijssen Disease

DIAGNOSTIC TESTING AND CODING

Diagnosis of MLD includes MRI to identify lesions and atrophy in the white matter of the brain that is characteristic of MLD. Urine tests usually show elevated sulfatide levels. Some psychiatric disorders coupled with difficulty walking or muscle wasting suggests the possibility of MLD. Blood testing can show a reduced activity of the ARSA enzyme.
Deficiency of the ARSA enzyme alone is not proof of MLD, because a substantial ARSA deficiency without any symptoms or clinical consequences is frequent in the general population. During diagnosis and genetic counseling, these harmless ARSA enzyme deficiencies must be distinguished from those causing MLD. The only diagnostic test that solves this problem and is definitive for MLD diagnosis is analysis of the genetic mutation.

TREATMENT

No effective treatment is available to reverse the course of MLD. Drug therapy is part of supportive care for symptoms such as behavioral disturbances, feeding difficulties, seizures, and constipation. Bone marrow transplantation has been tried and there is evidence that this treatment might slow the progression of the disease. In infants, during a symptom-free phase of the late infantile form, neurocognitive function may be stabilized, but the symptoms of motor function loss progress.

PROGRESSION

The prognosis for MLD is poor. In young children with MLD late infantile form, progressive loss of motor and cognitive functions is rapid. Death usually results within five years after the onset of clinical symptoms.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Genetic testing of ARSA gene (targeted mutation or sequence analysis, elevation of sulfatides (10 to 100 times normal) in 24-hour urine, enzyme assay for ARSA enzyme activity, MRI or CAT scan with characteristic white matter abnormalities and description of associated clinical findings (muscle weakness or wasting, rigidity developmental delays).

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

110.08 B

Late infantile form of MLD confirmed by genetic testing or elevated sulfatides in 24-hour urine.

111.06A or B

Late infantile form of MLD (by clinical diagnosis or other laboratory testing with motor dysfunction as specified in 111.06A or B.

Medical Equals

NIEMANN-PICK DISEASE (NPD) - Type A

DESCRIPTION

Niemann-Pick disease (NPD) refers to a group of inherited metabolic disorders known as the leukodystrophies or lipid storage diseases in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and the brain. Symptoms may include lack of muscle coordination, brain degeneration, learning problems, loss of muscle tone, increased sensitivity to touch, spasticity, feeding and swallowing difficulties, slurred speech, and an enlarged liver and spleen. There may be clouding of the cornea and a characteristic cherry-red halo develops around the center of the retina. The disease has 4 related types. NPD Type A, neurodegenerative form, occurs in infants. It is characterized by jaundice, an enlarged liver, and profound brain damage. In NPD Type A, insufficient activity of an enzyme called sphingomyelinase causes the build up of toxic amounts of sphingomyelin, a fatty substance present in every cell of the body.

ALTERNATE NAMES

Acute Neuronopathic form-type A-classic infantile form, Niemann Disease, Sphingomyelin Lipidosis, Sphingomyelinase Deficiency

DIAGNOSTIC TESTING AND CODING

NPD Type A is diagnosed by measuring the amount of acid sphingomyelinase (ASM) in white blood cells. The test can be done using a blood or bone marrow sample. Sphingomyelinase assays (analysis) can also be used. DNA tests can be done to diagnose carriers. Prenatal testing is available when a mutation is known to exist in the family.

TREATMENT

There is currently no effective treatment for persons with NPD Type A. Medicines are available to control or relieve many symptoms, such as cataplexy and seizures.

PROGRESSION

Infants with NPD Type A generally die by age 2 or 3.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Acid sphingomyelinase (ASM) activity level in blood or bone marrow white blood cells, physical findings of hepatosplenomegaly (enlarged liver and spleen), and evidence of neurodevelopmental regression and progressive delay.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

110.08B

Catastrophic congenital abnormalities or disease

Medical Equals

NON-SMALL CELL LUNG CANCER

DESCRIPTION

Lung Cancer (non small cell) forms in tissues of the lung, usually in the cells lining the air passages. The two main types are Small Cell Lung Cancer and Non-Small Cell Lung Cancer. Diagnosis of the type of cancer is based on microscopic examination. About 87% of lung cancers are Non-Small Cell Lung Cancers. This type spreads more slowly than Small Cell Lung Cancer. The three types of Non-Small Cell Lung Carcinoma are Squamous Cell Carcinoma, Large Cell Carcinoma, and Adenocarcinoma.
In Stage III B It has not spread to distant sites. Stage III B has two combinations that make up this stage.
In the first combination (Any T, N3, MO) the cancer has spread to lymph nodes near the collarbone on either side, and/or has spread to hilar nodes or mediastinal lymph nodes on the side opposite the primary tumor.
In the second combination (T4, any N, MO), the tumor has grown into the space behind the chest bone and in front of the heart (the mediastinum), the heart, the large blood vessels near the heart (such as the aorta), the windpipe, the esophagus, the backbone, or the carina:

• Two or more separate tumor nodules are present in the same lobe of a lung; or
• There is a fluid containing cancer cells in the space around the lung (a malignant pleural effusion).

In Stage IV (Any T, Any N, M1) the tumor can be any size and may or may not have grown into nearby structures or reached nearby lymph nodes. It has spread to distant sites.
Early lung cancer often does not cause symptoms. As the cancer progresses, common symptoms may include persistent or worsening cough, breathing problems, constant chest pain, coughing up blood, a hoarse voice, frequent lung infections, fatigue, and/or unintentional weight loss.

ALTERNATE NAMES

Squamous Cell Lung Carcinoma, Squamous Cell Lung Cancer, Large Cell Lung Carcinoma, Large Cell Lung Cancer, Adenocarcinoma of the Lung, Non-Small Cell Lung Cancer, Non-Small Cell Lung Carcinoma, Lung Carcinoma

DIAGNOSTIC TESTING AND CODING

The following may be used to diagnose the disease: physical exam and history, chest x-ray, CT scan, PET scan, sputum cytology, bronchoscopy, fine needle aspiration biopsy, thorascoscopy, thoracotomy, and/or mediastinoscopy.

TREATMENT

Treatment of Stage IIIB Non-Small Cell Lung Carcinoma may include surgery, external radiation therapy, chemotherapy, or a combination of all three.
Treatment of Stage IV Non-Small Cell Lung Carcinoma may include internal radiation therapy, and/or external radiation as palliative therapy to relieve pain, symptoms, and improve quality of life.

PROGRESSION

Diagnosis in the early stages provides the greatest chance for survival; however, symptoms of lung carcinoma usually do not appear until the disease is in an advanced stage. Treatment for Stage IV will not cure the cancer, but can reduce symptoms and extend and improve the quality of life.
The 5-year survival rate for Lung Cancer is 15%. Late stage Lung Cancer has a 5-year survival rate of less than 5%. Most Lung Cancer patients die within a year of diagnosis.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: A pathology report and an operative report are the preferred methods for documentation.
In the absence of these reports, the adjudicator may use a physician's opinion that indicates the cancer is inoperable or unresectable based on described objective findings.
“Inoperable” refers to a physician's opinion that surgery would not be beneficial based on a review of imaging studies, laboratory results, and physical examination findings. Unresectable cancer is established when the operative report indicates that the cancer is not completely removed or the pathology report notes that the surgical specimen has positive margins.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

13.14 A

Lung Cancer that is inoperable, unresectable, recurrent, or with metastases to or beyond the hilar nodes meets Listing 13.14 A.

Medical Equals

ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY

DESCRIPTION

Ornithine Transcarbamylase (OTC) Deficiency is a rare genetic disorder characterized by complete or partial lack of the enzyme ornithine transcarbamylase (OTC). OTC is one of six enzymes that play a role in the break down and removal of nitrogen from the body, a process known as the urea cycle. In most cases the early symptoms appear within the first three days of life and include respiratory distress, feeding difficulty, hypotonia, lethargy, and death in untreated cases. Neonatal hyperammonemic coma lasting longer than 48 hours usually results in cortical atrophy and mental retardation. Accumulation of ammonium in the brain and blood usually follows a protein load or intermittent infection. OTC deficient patients are particularly sensitive to toxic effects of valproate.

ALTERNATE NAMES

Hyperammonemia Type II, Hyperammonemia due to Ornithine Transcarbamylase Deficiency, Ornithine Carbamyltransferase Deficiency

DIAGNOSTIC TESTING AND CODING

• Laboratory confirmation of the gene defect is necessary. The definitive diagnostic test for OTC requires the determination of enzyme activity from a liver biopsy. The combination of family history of the disorder, clinical presentation, plasma amino acid and urine orotic acid testing, and in some cases, molecular genetic testing are often sufficient for diagnostic confirmation, eliminating the risks of liver biopsy.
• The presence of hyperammonemia, elevated urinary orotic acid and a very low BUN level may present diagnostic clues. In addition, blood ammonia studies, serum amino acid quantitation may show elevated ornithine, glutamine, and alanine levels and relatively low citrulline levels, but these changes are neither invariable nor diagnostic. Urine organic acid and amino acid analysis are helpful in ruling out other conditions.
• Beyond demonstration of hyperammonemia, the only basis for clinical diagnosis is demonstration of elevated urinary orotic acid.
• Enzymatic deficiency of the ornithine transcarbamylase enzyme can be further confirmed with molecular diagnosis. However, even using a combination of different molecular analytic strategies, only 80% of proven enzymatic deficiencies can be shown to have genetic mutation.

TREATMENT

• Diet changes to discontinue protein intake is mandatory, with compensatory increases in carbohydrates and lipids in order to offset any catabolic tendency to draw on muscle amino acids for energy. Vegetarian diets are preferred because dietary protein intake often is associated with migraine-like headache.
• Hemodialysis is used to achieve rapid reduction of extremely high blood ammonia levels (in some cases exceeding 2000 mg/dL) in comatose individuals.
• Intravenous administration of sodium benzoate, arginine, and sodium phenylacetate in a large medical facility setting with close laboratory monitoring is a treatment form.

PROGRESSION

Morbidity and mortality are high, especially in individuals with the neonatal form.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Clinical evaluation should include a description of physical and developmental findings, and current pediatric and neurological examination. Routine Laboratory tests will help rule out other disorders and MRI findings may be characteristic of ALX.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

110.08 A or B
111.02 A and B
111.06 A and B
112.02
112.05

Laboratory and clinical findings consistent with OTC deficiency and progressive encephalopathy with or without treatment.

Medical Equals

OSTEOGENESIS IMPERFECTA (OI) - Type II

DESCRIPTION

Osteogenesis Imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term “osteogenesis imperfecta” means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.
There are at least eight recognized forms of osteogenesis imperfecta, designated type I through type VIII. The types can be distinguished by their signs and symptoms, although their characteristic features overlap. Type I is the mildest form of osteogenesis imperfecta and type II is the most severe; other types of this condition have signs and symptoms that fall somewhere between these two extremes. Increasingly, genetic factors are used to define the different forms of osteogenesis imperfecta.
The milder forms of osteogenesis imperfecta, including type I, are characterized by bone fractures during childhood and adolescence that often result from minor trauma. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and may develop hearing loss in adulthood.
Other types of osteogenesis imperfecta are more severe, causing frequent bone fractures that may begin before birth and result from little or no trauma. Additional features of these conditions can include blue sclerae, short stature, hearing loss, respiratory problems, and a disorder of tooth development called dentinogenesis imperfecta. The most severe forms of osteogenesis imperfecta, particularly type II, can include an abnormally small, fragile rib cage and underdeveloped lungs. Infants with these abnormalities have life-threatening problems with breathing and often die shortly after birth.

ALTERNATE NAMES

Osteogenesis Imperfecta Congenita (OIC), Vrolik Disease (OI Type 2A)

DIAGNOSTIC TESTING AND CODING

Ultrasound can often detect severe cases of OI during pregnancy. The severe form of OI Type II can be seen on ultrasound when the fetus is as young as 16 weeks. Genetic testing may be able to identify the mutation. Most infants with more severe forms of osteogenesis imperfecta (such as type II) have no history of the condition in their family. In these infants, the condition is caused by new (sporadic) mutations in the COL1A1 or COL1A2 gene.

TREATMENT

There is no cure for this disease. However, specific therapies can reduce the pain and complications associated with OI. Bisphosphonates are drugs that have been used to treat osteoporosis.

PROGRESSION

OI Type II infants have life-threatening problems with breathing and often die shortly after birth.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Type I collagen defect confirmed by biochemical skin biopsy test or DNA-based gene test for COL1A1 and COL1A2. Physical and imaging findings consistent with Type II.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

110.08A

Catastrophic congenital abnormality or disease.

Medical Equals

OVARIAN CANCER

DESCRIPTION

Ovarian Cancer forms in tissues of the ovary. Most ovarian cancers are either ovarian epithelial carcinomas or malignant germ cell tumors. Ovarian Epithelial Cancer is a disease in which malignant cells form in the tissue covering the ovary.
Those with a family history of ovarian cancer are at an increased risk of developing ovarian cancer. Some ovarian cancers are caused by inherited gene mutation. Hereditary ovarian cancers make up approximately 5% to 10% of all cases of ovarian cancer. Tests that can detect mutated genes are sometimes performed for members of families with a high risk of cancer.

ALTERNATE NAMES

Ovarian Epithelial Carcinoma, Ovarian Epithelial Cancer, Ovarian Carcinoma

DIAGNOSTIC TESTING AND CODING

The following may be used to diagnose the disease: blood tests, urinalysis, GI series, exploratory laparoscopy, ultrasound, abdominal CT scan, and/or MRI of the abdomen.

TREATMENT

Treatment may include surgery, radiation, and/or chemotherapy.
If the cancer is inoperable or unresectable, treatment with radiation and/or chemotherapy can be utilized for palliation, but the prognosis is poor.

PROGRESSION

The prognosis for individuals with ovarian cancer is often poor. About 76% with ovarian cancer survive 1 year after diagnosis and about 45% live longer than 5 years after diagnosis.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: A pathology report and an operative report are the preferred methods for documentation.
In the absence of these reports, the adjudicator may use a physician's opinion that indicates the cancer is inoperable or unresectable based on described objective findings.
“Inoperable” refers to a physician's opinion that surgery would not be beneficial based on a review of imaging studies, laboratory results, and physical examination findings. Unresectable cancer is established when the operative report indicates that the cancer is not completely removed or the pathology report notes that the surgical specimen has positive margins.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

Ovarian Cancer that is inoperable, unresectable, or with distant metastases has a poor prognosis, but is currently not specifically listed under Listing 13.23 E.

Medical Equals

13.23 E 1 a

Ovarian Cancer that is inoperable, unresectable, or with distant metastases equals Listing 13.23 E 1 a, as it has a similar prognosis to this listing.

PANCREATIC CANCER

DESCRIPTION

Pancreatic Cancer is a disease in which malignant (cancer) cells form in the tissues of the pancreas. Most pancreatic cancers begin in the ducts that carry pancreatic juices. The digestive juices are produced by exocrine pancreas cells and the hormones are produced by endocrine pancreas cells. About 95% of pancreatic cancers begin in exocrine cells.
Symptoms of this disease may include: pain in the upper abdomen or upper back; yellow skin and eyes, and dark urine from jaundice; weakness; loss of appetite; nausea and vomiting, and weight loss.

ALTERNATE NAMES

Exocrine cancer, Pancreatic Adenocarcinoma

DIAGNOSTIC TESTING AND CODING

To diagnose the disease the following may be done: physical exam, lab tests including blood, urine, and stool samples to check for bilirubin and other substances, CT scan, Ultrasonography: Transabdominal ultrasound or Endoscopic ultrasound (EUS), endoscopic retrograde cholangiopancreatography (ERCP), percutaneous transhepatic cholangiography (PTC), and biopsy. To determine the stage of the cancer tests such as CT scan, ultrasonography, laparoscopy or angiography may be appropriate.

TREATMENT

People with pancreatic cancer may have several treatment options. Depending on the type and stage, pancreatic cancer may be treated with surgery, radiation therapy or chemotherapy. Some individuals have a combination of therapies. When a cure or control of the disease is not possible, some patients and their doctors choose palliative therapy.

PROGRESSION

Pancreatic cancer can be cured only when it is found at an early stage, before it has spread. However, other treatments may be able to control the disease and help patients live longer and feel better.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: A pathology report showing the presence of a non-islet cell adenocarcinoma in the pancreas is the only test that can definitively make the diagnosis.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

13.20 A & B

Medical Equals

PERITONEAL MESOTHELIOMA

DESCRIPTION

Peritoneal Mesothelioma is a rare cancer of the abdominal lining (1 per 1,000,000). It is usually associated with asbestos exposure and is regarded as universally fatal. Exposure to asbestos fibers can cause mesothelioma even years later. There is evidence that family members and others living with people exposed to asbestos have an increased risk of developing mesothelioma, and possibly other asbestos-related diseases. This risk may be the result of exposure to asbestos dust brought home on the clothing and hair of asbestos workers. Symptoms of peritoneal mesothelioma include weight loss and abdominal pain and swelling due to a buildup of fluid in the abdomen. Other symptoms of peritoneal mesothelioma may include bowel obstruction, blood clotting abnormalities, anemia, and fever.

ALTERNATE NAMES

Malignant Mesothelioma of the Peritoneum

DIAGNOSTIC TESTING AND CODING

Diagnosing Peritoneal Mesothelioma is often difficult; because the symptoms are often associated with other conditions. Diagnostic testing includes a review of the patient's medical history and a complete physical examination, including x-rays of the abdomen. Diagnostic imaging by CT scan and MRI suggests a diagnosis, but definitive diagnosis is via tissue sampling by CT-directed biopsy or peritoneoscopy.

TREATMENT

Standard treatment for all but localized mesothelioma is generally not curative. However, radical resection is associated with a better prognosis and should be attempted when possible. Chemotherapy can be administered systemically or directly into the abdomen and is helpful as palliative treatment.

PROGRESSION

Delayed diagnosis of mesothelioma worsens its prognosis. In general, the prognosis of mesothelioma is poor and most studies report median survival of less than a year.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Biopsy.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

13.15A

Medical Equals

13.16

Peritoneal Mesothelioma equals this listing based on diagnosis confirmed by biopsy.

PLEURAL MESOTHELIOMA

DESCRIPTION

Pleural Mesothelioma is a rare type of cancer in which malignant cells are found in the pleura (the thin layer of tissue that lines the chest cavity and covers the lungs). Exposure to airborne asbestos particles increases one's risk of developing malignant mesothelioma. Although reported incidence rates have increased in the past 20 years, mesothelioma is still a relatively rare cancer. About 2,000 new cases of mesothelioma are diagnosed in the United States each year. Mesothelioma occurs more often in men than in women and risk increases with age, but this disease can appear in either men or women at any age. Working with asbestos is the major risk factor for mesothelioma. A history of asbestos exposure at work is reported in about 70 percent to 80 percent of all cases. However, mesothelioma has been reported in some individuals without any known exposure to asbestos. Symptoms of mesothelioma may not appear until 30 to 50 years after exposure to asbestos. Shortness of breath and pain in the chest due to an accumulation of fluid in the pleura are often symptoms of pleural mesothelioma.

ALTERNATE NAMES

Malignant Mesothelioma of the Pleura

DIAGNOSTIC TESTING AND CODING

Diagnosing pleural mesothelioma is often difficult, because the symptoms are similar to those of a number of other conditions. Diagnosis begins with a review of the patient's medical history, including any history of asbestos exposure. A complete physical examination may be performed, including x-rays of the chest or abdomen and lung functioning tests. A CT scan or an MRI may also be useful.
A biopsy is needed to confirm a diagnosis of pleural mesothelioma. In a biopsy, a surgeon or a medical oncologist (a doctor who specializes in diagnosing and treating cancer) removes a sample of tissue for examination. If the cancer is in the chest, the doctor may perform a thoracoscopy. In this procedure, the doctor makes a small cut through the chest wall and puts a thin, lighted tube called a thoracoscope into the chest between two ribs. Thoracoscopy allows the doctor to look inside the chest and obtain tissue samples. If the procedure does not yield enough tissue, more extensive diagnostic surgery may be necessary.

TREATMENT

Treatment for pleural mesothelioma depends on the location of the cancer, the size of the tumor, the amount of fluid in the chest, the stage of the disease, and the individual's age and general health. Standard treatment options include surgery, radiation therapy, and chemotherapy. Surgery is associated with a median survival time of 15-24 months; chemotherapy has an average response rate of 10-20%.

PROGRESSION

Advanced malignant mesothelioma includes stages II, III and IV. In stage II, cancer is found in the lining of the chest wall and the lymph nodes on the same side of the chest. Cancer may also be found in the lining of the lung, the lining of the diaphragm, or the lining of the sac that covers the heart on the same side of the chest. In stage III, cancer has spread to any of the following areas: the chest wall, the mediastinum, the heart, beyond the diaphragm and the peritoneum. Cancer may have also spread to lymph nodes on the other side of the chest or outside the chest. In stage IV, cancer has spread to distant organs or tissues. The prognosis is poor with a limited survival time of less than 2 years.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Biopsy.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

13.15 A

Meets Listing 13.15 A currently.

Medical Equals

POMPE DISEASE - Infantile

DESCRIPTION

Pompe disease is a rare (estimated at 1 in every 40,000 births) inherited and often fatal disorder that disables the heart and muscles. It is caused by mutations in a gene that makes an enzyme called alpha-glucosidase (GAA). Normally, the body uses GAA to break down glycogen, a stored form of sugar used for energy. But in Pompe disease, mutations in the GAA gene reduce or completely eliminate this essential enzyme. Excessive amounts of glycogen accumulate everywhere in the body, but the cells of the heart and skeletal muscles are the most seriously affected. Researchers have identified up to 70 different mutations in the GAA gene that cause the symptoms of Pompe disease, which can vary widely in terms of age of onset and severity. The severity of the disease and the age of onset are related to the degree of enzyme deficiency.
Infantile form occurs within the first months of life, with feeding problems, poor weight gain, muscle weakness, floppiness, and head lag. Respiratory difficulties are often complicated by lung infections. The heart is grossly enlarged. More than half of all infants with Pompe disease also have enlarged tongues.

ALTERNATE NAMES

Acid Maltase Deficiency (AMD), Alpha-1,4 Glucosidase Deficiency, Cardiomegalia Glycogenica Diffusa, Generalized Glycogenosis (Cardiac), Glycogen Storage Disease type II, Glycogenosis type II, Lysosomal Glucosidase Deficiency

DIAGNOSTIC TESTING AND CODING

A diagnosis of Pompe disease can be confirmed by screening for the common genetic mutations or measuring the level of GAA enzyme activity in a blood sample - a test that has 100 percent accuracy.

TREATMENT

There is no cure for Pompe disease. Treatment, therefore, serves only to help minimize the symptoms. The clinical course is typically not affected by drugs that are used to treat the respiratory or cardiac defects. A high protein diet may be helpful and has led to significant improvements in respiratory function in some cases. An enzyme replacement therapy has been developed that has shown, in clinical trials with Infantile Pompe Disease, to decrease heart size, maintain normal heart function, improve muscle function, tone, and strength, and reduce glycogen accumulation. A drug called alglucosidase alfa (Myozyme©), has received FDA approval for the treatment of Pompe disease.

PROGRESSION

Most babies with the Infantile form of Pompe disease die from cardiac or respiratory complications before their first birthday. Without enzyme replacement therapy, the hearts of babies progressively thicken and enlarge.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: A diagnosis of Pompe Disease can be confirmed by screening for the common genetic mutations or measuring the level of GAA deficiency in a blood sample - a test that has 100% accuracy.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

110.08 A, B
111.06 A, B
104.02 A, B

These listings should be considered when definitive genetic testing is available or when the symptoms and signs that would meet these listings independent of the exact diagnosis are present.

Medical Equals

RETT (RTT) SYNDROME

DESCRIPTION

Rett Syndrome, one of the MECP2 gene-related disorders, is a progressive neurologic disease in girls characterized by normal birth and apparently normal psychomotor development during the first six to 18 months of life. The girls then enter a short period of developmental stagnation followed by rapid regression in language and motor skills. The hallmark of the disease is the loss of purposeful hand use and its replacement with repetitive stereotyped hand movements. Screaming fits and inconsolable crying are common by age 18-24 months. Additional characteristics include autistic features, panic-like attacks bruxism, (teeth grinding), episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, and acquired microcephaly. After this period of rapid deterioration, the disease becomes relatively stable, though girls will likely develop dystonia and foot and hand deformities as they grow older. Seizures occur in up to 90% of affected females. Females with classic Rett syndrome typically survive into adulthood, but the incidence of sudden, unexplained death (which may be caused by cardiac arrhythmias) is significantly higher than in controls of similar age.

ALTERNATE NAMES

MECP2 Related Disorder, RTT, RTS

DIAGNOSTIC TESTING AND CODING

The diagnosis of Rett syndrome rests on clinical diagnostic criteria established for the syndrome and/or molecular testing of the MECP2 gene. Molecular genetic testing identifies MECP2 mutations in approximately 80% of females with Rett syndrome.

TREATMENT

Currently there is no cure for RTT. Management is mainly symptomatic focusing on optimizing the individual’s abilities and providing psychosocial support for the family.

PROGRESSION

Females with Rett syndrome may survive into adulthood, but in a very dependent state. The incidence of sudden, unexplained death is significantly higher than in controls of similar age and may in part be caused by the higher incidence of longer corrected QT intervals, T-wave abnormalities, and reduced heart rate variability.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Molecular genetic testing with sequence analysis of the MECP2 gene on the X chromosome will identify 80% of individuals with Rett syndrome. Additional clinical findings would show a characteristic decline or loss of previously attained developmental milestones (i.e., normal development for 6-18 months, followed by loss of milestones), a description of characteristic motor findings (repetitive hand movements, toe walking or unsteady, wide-based, stiff-legged gait) and severely impaired expressive language.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

110.08 B

All claimants with clinical diagnostic criteria of Rett syndrome and abnormal molecular genetic testing of the MECP2 gene. (Positive genetic testing alone would not meet 110.08B).

111.06 A & B or 11.17 A

Any Rett syndrome or any MECP2 gene related disorder with motor dysfunction meeting the severity of these listings.

112.02 or 12.02

Mental dysfunction meeting the severity of these listings.

Medical Equals

SALIVARY TUMORS

DESCRIPTION

Malignant Salivary Tumors is a rare cancer that forms in tissues of salivary glands in the floor of the mouth and throughout the oropharynx, the parotid glands and the submandibular glands. Cancer of the salivary glands commonly presents with one of several different histologies: mucoepidermoid, adenoid cystic, acinic cell, malignant mixed, squamous or adenocarcinoma. There are two rare histologies which have much worse prognosis than the standard pathological diagnoses: Anaplastic small cell and adenosquamous carcinoma of the salivary glands.
Anaplastic Small Cell Carcinoma of the Salivary Glands is a neuroendocrine tumor which displays very aggressive metastatic behavior. Microscopically, the tumor cells have oval, hyperchromatic nuclei and scant amount of cytoplasm and are organized in sheets, strands, and nests. At time of diagnosis, distant metastatic disease is almost always present.
Adenosquamous Carcinoma of the Salivary Glands is an extremely rare malignant neoplasm that simultaneously arises from surface mucosal epithelium and salivary gland ductal epithelium. The carcinoma shows histopathologic features of both squamous cell carcinoma and adenocarcinoma. In addition to swelling, adenosquamous carcinoma produces visible changes in the mucosa including erythema, ulceration, and induration. Pain frequently accompanies ulceration. This carcinoma behaves aggressively with extensive infiltrating local disease as well as distant metastatic disease.
Symptoms include: a lump (usually painless) in the area of the ear, cheek, jaw, lip, or inside the mouth; fluid draining from the ear; trouble swallowing or opening the mouth widely; numbness or weakness in the face and pain in the face that does not go away.

ALTERNATE NAMES

Salivary Glands Cancer, Anaplastic Small Cell Carcinoma of the Salivary Glands, Adenosquamous Carcinoma of the Salivary Glands, Anaplastic Small Cell Carcinoma, Adenosquamos Carcinoma

DIAGNOSTIC TESTING AND CODING

Small cell cancer of the salivary gland and adenosquamous cancer of the salivary gland can be determined only by pathologic evaluation of tissue obtained by needle biopsy or surgery.
Additional diagnostic tests may include: MRI, CT scan, PET scan, ultrasound, endoscopy and fine needle aspiration biopsy. After salivary gland cancer has been diagnosed, tests are done to find out if cancer cells have spread within the salivary gland or to other parts of the body.

TREATMENT

Treatment can consist of surgery, radiation, and chemotherapy in various combinations depending on the clinical circumstances. Unfortunately, treatment for small cell carcinoma or adenosquamous carcinoma of the salivary gland is rarely curative.

PROGRESSION

Progression can be with local recurrence or distant metastases.
Anaplastic Small Cell Carcinoma - Neuroendocrine carcinomas are frequently found in the minor salivary glands. Individuals with this type of cancer have a better survival rate compared to those with small cell carcinomas of the lung.
Adenosquamous Carcinoma - Limited data indicate that this is a highly aggressive neoplasm with a poor prognosis.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: A pathology report on needle biopsy or surgical specimen showing small cell cancer or adenosquamous cancer.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

Medical Equals

13.14 B

Small cell carcinoma of the lung and small cell carcinoma of the salivary gland behave similarly with early metastatic progression

13.14 B

Adenosquamous carcinoma of a salivary gland equals 13.14 B because its poor prognosis is similar to small cell carcinoma of the lung as it is based on histology alone.

SANDHOFF DISEASE

DESCRIPTION

Sandhoff disease is a rare, genetic, lipid storage disorder resulting in the progressive deterioration of the central nervous system. Sandhoff disease is caused by a mutation (defect) in the HEXB gene. This defect causes a deficiency of the enzyme beta-hexosaminidase, which results in the accumulation of certain fats (lipids) in the brain and other organs of the body.
Infantile form: Onset of the disorder usually occurs at 6 months of age. Infants with Sandhoff disease typically appear normal until the age of 3 to 6 months, when development slows and muscles used for movement weaken.
Sandhoff disease symptoms may include:

• Motor weakness
• Startle reaction to sound
• Early blindness
• Progressive mental and motor deterioration
• Macrocephaly (an abnormally enlarged head)
• Cherry-red spots in the eyes
• Seizures
• Myoclonus (shock-like contractions of a muscle)
• Frequent respiratory infections
• Doll-like facial appearance
• An enlarged liver and spleen.

ALTERNATE NAMES

Gangliosidosis GM2 type II, Gangliosidosis Beta Hexosaminidase B Deficiency, Hexosaminidases A and B Deficiency

DIAGNOSTIC TESTING AND CODING

Onset by 6 months of age and positive gene testing confirm the diagnosis of this disease. Individuals and carriers of Sandhoff disease can be identified by a simple blood enzyme analysis test that measures HEXB activity.

TREATMENT

There is no specific treatment for Sandhoff disease. Supportive treatment includes proper nutrition and hydration and keeping the airway open. Anticonvulsants may initially control seizures. In other ongoing studies, a small number of children have received an experimental treatment using transplants of stem cells from umbilical cord blood. Although these limited trials have not yet produced a treatment or cure, scientists continue to study these and other investigational approaches.

PROGRESSION

The prognosis for individuals with Sandhoff disease is poor. In the Infantile form, affected children usually do not survive past the age of 3 and death is generally caused by respiratory infections.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Genetic testing for a mutation in the HEXB gene, and a clinical description of the physical and developmental features. If definitive genetic testing is not available, the results of other laboratory studies such as enzyme assays, molecular cell analysis, and tissue biopsy can be substituted.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

110.08B

Catastrophic congenital abnormality or disease.

Medical Equals

SMALL CELL CANCER OF THE LARGE INTESTINE

DESCRIPTION

Small Cell Cancer of the Large Intestine is an aggressive (fast-growing) cancer that forms in tissues of the intestine and can spread to other parts of the body. The cancer cells look small and oval-shaped when looked at under a microscope. Small cell carcinoma of the large intestine represents .2% to .8% of all colorectal malignancies. General symptoms may include: change in bowel habits, abdominal pain and weight loss.

ALTERNATE NAMES

Cancer of the Colon, Colorectal Small Cell Cancer, Small Cell Carcinoma of the Large Intestine

DIAGNOSTIC TESTING AND CODING

The diagnosis of colorectal small cell carcinoma is confirmed by pathology and the use of immunohistochemistry. Specific staining for CD56, pancytokeratin, LMWK, CK 7 and 19 are usually positive in small cell malignancies. Early diagnosis depends on routine screening. Occult blood study, sigmoidoscopy, colonoscopy, CT scan, endoscopy are used.

TREATMENT

Treatment for colorectal small cell carcinoma is the use of combined chemotherapy and radiotherapy as is used in small cell carcinoma of the lung.

PROGRESSION

Survival rates are poor, usually less than 2 years.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: The diagnosis of small cell carcinoma of the large intestine is a pathologic diagnosis which would be confirmed by a pathology report of colonoscopy specimen.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

Currently, there is no listing for Small Cell Carcinoma of the Large Intestine.

Medical Equals

13.14 B

It is most appropriate to regard Small Cell Carcinoma of the Large Intestine as equaling Listing 13.14 B.

SMALL CELL CANCER OF THE OVARY

DESCRIPTION

Small Cell Cancer of the Ovary is an extremely rare type of ovarian cancer that is distinguished from other ovarian epithelial and ovarian germ cell tumors. It is divided into two types, the hypercalcemic and the pulmonary type, of which the latter is extremely rare. Small cell cancer of the ovary tends to occur in young women (under 40 years of age).

ALTERNATE NAMES

Cancer of the Ovary, Small Cell Carcinoma of the Ovary

DIAGNOSTIC TESTING AND CODING

There is no standard or routine screening test for small cell cancer of the ovary. Pelvic exam, transvaginal ultrasound may detect ovarian cancer. Biopsy is the primary method of diagnosis and staging of the disease.

TREATMENT

The primary form of treatment for small cell cancer of the ovary is surgery with chemotherapy or radiotherapy, depending on the stage of the disease. Effective treatment of patients with high-stage tumors or recurrent disease has not yet been achieved, although rare patients with high stage tumors have survived over 4 years after intensive chemotherapy, radiation therapy, or both.

PROGRESSION

Small cell cancer of the ovary is a highly aggressive tumor. Metastatic tumor occurs mostly within the pelvis and abdomen, but hematogenous spread also occurs. Only one-third of patients with stage Ia disease have disease-free follow-up periods and almost all patients with higher stage tumors die of disease, usually within 2 years.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: A pathology report of a biopsy specimen from the ovary showing small cell cancer. There is no substitute for pathology.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

Medical Equals

13.23E

Small cell cancer of the ovary equals listing 13.23E with a diagnosis supported by biopsy.

SMALL CELL CANCER OF THE PROSTATE

DESCRIPTION

Small Cell Cancer (carcinoma) of the Prostate is a rare cancer occurring in no more than 1 percent of all cancers of the prostate. They are aggressive tumors which often present at advanced stages or as metastatic diseases and are occasionally associated with paraneoplastic syndromes. Some small cell carcinomas represent recurrent tumors after hormonal therapy for conventional adenocarcinomas of the prostate. More commonly, small cell carcinoma is present as a component of mixed tumors which also contain a component of conventional adenocarcinoma. Small cell carcinomas of the prostate are similar to the more common small cell carcinomas of the lung. They are characterized by the following features: 1) solid, sheet-like growth pattern, often with areas of tumor necrosis; 2) small, round to spindle cells with scant cytoplasm, high nuclear/cytoplasmic ration and ill-defined borders; 3) hyperchromatic nuclei with finely granular chromatin and nuclear molding; 4) absent or inconspicuous nucleoli, and 5) high mitotic rate.

ALTERNATE NAMES

Cancer of the Prostate Gland, Prostatic Cancer, Prostatic Carcinoma, Small Cell Carcinoma of the Prostate

DIAGNOSTIC TESTING AND CODING

Small Cell Carcinoma of the Prostate presents as a solid growth pattern which makes it difficult to separate from adenocarcinomas however immunohistochemical study can help in diagnosing this condition. Small cell carcinomas are often positive for NE markers chromogranin-A, synaptophysin and NSE although one or more of these markers may be negative in any given case. Like small cell carcinomas of the lung, tumor cells often show dot-like cytokeratin staining pattern and are often positive for TTF-1. In contrast to prostatic adenocarcinoma, tumor cells of small cell carcinoma are usually negative for androgen receptor and PSA but exceptions exist.

TREATMENT

Hormonal therapy is not effective in treating small cell carcinoma of the prostate and neither is surgery. The general response to chemotherapy, the main form of therapy for small cell carcinoma, is some initial response but progressing to a rather rapid downhill course.

PROGRESSION

The progression of small cell carcinoma of the prostate is usually rapid and fatal.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: A pathology report of a biopsy specimen from the prostate showing small cell histology. There is no substitute for pathology.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

Medical Equals

13.24

Small cell carcinoma of the prostate gland equals this listing with a diagnosis confirmed by a biopsy.

SMALL CELL CANCER OF THE UTERUS

DESCRIPTION

Small Cell Cancer of the Uterus, or Cervix, is an extremely aggressive tumor with a biological behavior that is similar to small cell cancer of the lung. Neuroendocrine tumors of the uterine cervix, are rare and aggressive cancers that account for approximately 1 to 2% of all cervical cancers. Small Cell Cancer of the Cervix (SCC) was first reported in 1958 and again in 1972 (Albores-Saavedra et al, 1972). Their early series included several poorly differentiated cancers that had a histological appearance similar to that of small cell or “oat cell” cancers of the lung. In subsequent years, there have been more than 40 reports of small series of patients with “small cell” or “neuroendocrine” carcinomas of the cervix. However, the inconsistent terminology used to describe endocrine cancers of the cervix has made it difficult to clearly define their incidence and behavior.

ALTERNATE NAMES

Small Cell Carcinoma of the Cervix, Neuroendocrine Carcinoma of the Cervix, Carcinoid Tumors, Argyrophil Cell Carcinomas, Oat Cell Carcinomas, Small Cell Undifferentiated Carcinoma, Uterine Cancer, Small Cell Carcinoma of the Uterus

DIAGNOSTIC TESTING AND CODING

Small Cell Cancer of the Uterus or Cervix is rarely discovered on routine pap smear. CT scan of the brain, chest, abdomen, pelvis, and bone marrow examination are done if a metastatic pattern is suspected. Imaging methods such as positron emission tomography could improve detection of para-aortic metastases that require extended regional radiation.

TREATMENT

Conventional treatments for small cell carcinoma of the uterus include surgery, radiation, chemotherapy, and immunotherapy.

PROGRESSION

Small Cell cancer of the uterus or Cervix is a highly aggressive tumor that often metastasizes early and widely by both lymphatic and haematogenous routes and involves regional and distant lymph nodes, lung, bone and brain and liver. The disease-free interval is usually less than two years with an almost 70% rate of recurrence within 12 months of diagnosis. Long term survival is possible for individuals with cancers that are clinically localized to the cervix but individuals with more advanced stage of the disease is poor with very few long term survivors.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: A pathology report of a biopsy specimen (or surgical specimen) of the uterus (and uterine cervix) showing small cell histology. There is no substitute for pathology.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

Medical Equals

13.23A or B

Small cell cancer of the uterus (corpus) or uterine cervix would equal the listing with a diagnosis supported by biopsy.

SMALL CELL LUNG CANCER

DESCRIPTION

There are two types of Lung Cancers: Small Cell and Non Small Cell. Small Cell Cancer of the Lung is an aggressive (fast-growing) cancer that forms in tissues of the lung and can spread to other parts of the body. Small cell lung cancer looks small and oval-shaped under a microscope.
Risk factors for small cell lung cancer include: smoking cigarettes, cigars or pipes, now or in the past, exposure to second-hand smoke and exposure to asbestos, or radon.
Symptoms may include persistent cough, wheezing, hoarseness, hemoptysis (expectoration of blood or of blood-stained sputum), dypsnea, chest pain, fatigue, decreased appetite and weight loss.

ALTERNATE NAMES

Small Cell Lung Carcinoma, Oat cell Lung cancer, Mixed small cell/large cell Lung carcinoma, Combined small cell Lung carcinoma

DIAGNOSTIC TESTING AND CODING

The diagnosis of small cell lung cancer is confirmed by a pathologist using laboratory studies obtained by bronchoscopy or a CT-guided procedure (fine-needle biopsy). Specimens (stains) for chromogranin, neuron-specific enolase and synaptophysin are usually positive. Staging of the carcinoma is performed by imaging studies (CT scans, MRI, PET scans). These studies provide the information needed for staging at diagnosis, response to treatment, resectionability and metastases.

TREATMENT

Management of limited stage small cell lung carcinoma involves a combination of chemotherapy and thoracic radiation therapies. Treatment can involve either a single modality or a series of multiple modalities. If a complete remission is obtained, prophylactic cranial radiation is offered. At this level of treatment, the disease is potentially curable. However, most individuals are diagnosed with extensive disease and are generally considered incurable but may achieve remission with the use of a combination chemotherapy regimen.

PROGRESSION

Although this disease is very responsive to chemotherapy, the overall survival rate is poor. Of those diagnosed with extensive small cell lung carcinoma (most patients) the 2 year survival rate is < 2%.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: A pathology report of a lung biopsy.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

13.14 B

Small cell lung carcinoma currently meets Listing 13.14

Medical Equals

SMALL INTESTINE CANCER

DESCRIPTION

Small Intestine Cancer forms in tissues of the small intestine. The most common type is Adenocarcinoma. Most of these tumors occur in the part of the small intestine near the stomach. They may grow and block the intestine.

ALTERNATE NAMES

Small Intestine Adenocarcinoma, Small Intestine Sarcoma, Small Intestine Gastrointestinal Stromal Tumor, Small Intestine Carcinoid, Small Intestine Carcinoma

DIAGNOSTIC TESTING AND CODING

The following may be used to diagnose the disease: physical exam and history, laboratory tests, x-rays, barium enema, fecal occult blood test (FOBT), endoscopy, biopsy, CT scan, and/or surgery.

TREATMENT

Treatment may include surgery, radiation, biologic therapy, and/or chemotherapy.

PROGRESSION

The overall 5-year survival rate for resectable Adenocarcinoma is only 20%.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: A pathology report and an operative report are the preferred methods for documentation.
In the absence of these reports, the adjudicator may use a physician's opinion that indicates the cancer is inoperable or unresectable based on described objective findings.
“Inoperable” refers to a physician's opinion that surgery would not be beneficial based on a review of imaging studies, laboratory results, and physical examination findings. Unresectable cancer is established when the operative report indicates that the cancer is not completely removed or the pathology report notes that the surgical specimen has positive margins.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

13.17

Small Intestine Cancer that is inoperable, unresectable, recurrent, or with distant metastases meets 13.17.

Medical Equals

SPINAL MUSCULAR ATROPHY (SMA) - Types 0 and 1

DESCRIPTION

Spinal muscular atrophy (SMA) of all types belongs to a group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children. The disorders are caused by an abnormal or missing gene known as the survival motor neuron gene (SMN1), which is responsible for the production of a protein essential to motor neurons. Without this protein, lower motor neurons in the spinal cord degenerate and die. The type of SMA is determined by the age of onset and the severity of symptoms. Type 0 is prenatal. Type 1 (also known as Werdnig-Hoffman disease or infantile-onset SMA) is evident at birth or within the first few months.
Symptoms include floppy limbs and trunk, feeble movements of the arms and legs, swallowing difficulties, a weak sucking reflex, and impaired breathing. Legs tend to be more impaired than arms.

ALTERNATE NAMES

Prenatal onset arthrogryposis multiplex congenital (SMA0), Werdnig-Hoffman disease-Infantile Muscular Atrophy (SMA1)

DIAGNOSTIC TESTING AND CODING

The clinical evaluation includes a history and physical examination. The history may reveal abnormalities during the pregnancy especially with onset of fetal movements or may reveal another affected family member. The history should define the onset of the disease and its progression. The physical examination reveals weakness, hypotonia, absent reflexes, and muscle fasciculation in an alert infant. It may reveal contractures, muscle atrophy, labored breathing with use of accessory muscles and malnutrition. Molecular testing of the SMN1 gene is needed for confirmation of diagnosis. Carrier status must be defined before prenatal diagnosis is attempted.

TREATMENT

There is no cure for SMA. There is no treatment for the progressive weakness caused by the disease. Treatment consists of managing the symptoms and preventing complications. Individuals with SMA Type 0 or 1 require little, if any, involvement of an orthopedist due to their short life span. Supportive care is important. When nutrition/feeding become concerns, tube feeding via nasogastric tube or gastrostomy may be offered. Attention must be paid to the respiratory system, because affected people have difficulty clearing secretions. Respiratory complications are common.

PROGRESSION

The prognosis is poor for infants with SMA Types 0 and 1. SMA Type 0 infants never achieve any motor milestones and usually die between 2-6 months of age. SMA type 1 children fare only slightly better in that they may achieve sitting with support only and survive to 2 years or less without respiratory assistance. SMA 1 children may survive longer if offered non-invasive respiratory support (NIPPV or tracheotomy).

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: The diagnosis is confirmed by molecular genetic testing of the SMA1 gene. Homozygous deletion of exon 7 of the SMN1 gene is seen in 95-98% of the cases while 2-5% of the cases will have this deletion in one chromosome and an intragenic mutation of the SMN1 gene in the other chromosome.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

110.08

111.06 B

Genetically confirmed SMA0 or SMA1

Medical Equals

111.06 B

Pending genetic confirmation but with a clinical diagnosis of SMA0 or SMA1

STOMACH CANCER

DESCRIPTION

Stomach Cancer forms in tissues lining the stomach. Age, diet, and stomach diseases can affect the risk of developing stomach cancer. In the early stages, the following symptoms may occur: indigestion and stomach discomfort, a bloated feeling after eating, mild nausea, loss of appetite, and/or heartburn. In more advanced stages, the following symptoms may occur: blood in the stool, vomiting, unintentional weight loss, stomach pain, jaundice, and/or trouble swallowing.

ALTERNATE NAMES

Gastric Cancer, Gastric Carcinoma, Stomach Carcinoma

DIAGNOSTIC TESTING AND CODING

The following may be used to diagnose the disease: physical exam and history, blood tests, endoscopy, fecal occult blood test (FOBT), barium swallow, biopsy, and/or CT scan.

TREATMENT

Treatment may include surgery, chemotherapy, radiation, and/or chemoradiation.
Treatment of Stage IV Gastric Cancer may include palliative chemotherapy, endoluminal laser therapy or endoluminal stent placement, palliative surgery, and/or a clinical trial of new combinations of chemotherapy.

PROGRESSION

The progression of the disease depends on the stage and extent of the cancer, as well as the patient's general health. Stomach cancer is often in an advanced stage when diagnosed and is rarely cured.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: A pathology report and an operative report are the preferred methods for documentation.
In the absence of these reports, the adjudicator may use a physician's opinion that indicates the cancer is inoperable or unresectable based on described objective findings.
“Inoperable” refers to a physician's opinion that surgery would not be beneficial based on a review of imaging studies, laboratory results, and physical examination findings. Unresectable cancer is established when the operative report indicates that the cancer is not completely removed or the pathology report notes that the surgical specimen has positive margins.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

13.16 B

Stomach Cancer that is inoperable, unresectable, recurrent, or with metastases meets Listing 13.16 B.

Medical Equals

THYROID CANCER

DESCRIPTION

Cancer that forms in the thyroid gland (an organ at the base of the throat that makes hormones that help control heart rate, blood pressure, body temperature, and weight). Four main types of thyroid cancer are papillary, follicular, medullary, and anaplastic thyroid cancer. The four types are based on how the cancer cells look under a microscope. Anaplastic thyroid carcinoma makes up about 2 percent of all thyroid cancers. It begins in the follicular cells of the thyroid. The cancer cells tend to grow and spread very quickly. Anaplastic thyroid cancer is very hard to control. Early thyroid cancer often does not have symptoms. But as the cancer grows, symptoms may include a lump in the front of the neck; hoarseness or voice changes; swollen lymph nodes in the neck; trouble swallowing or breathing; and pain in the throat or neck that does not go away.

ALTERNATE NAMES

Anaplastic Thyroid Carcinoma, Anaplastic Thyroid Cancer

DIAGNOSTIC TESTING AND CODING

Diagnostic testing should include a history and physical exam to detect growths or swelling in the lymph nodes; blood tests to detect abnormal levels of TSH; ultrasound to detect thyroid nodules that are too small to be felt; thyroid scan and biopsy. A biopsy is the only sure way to diagnose thyroid cancer.

TREATMENT

People with thyroid cancer have many treatment options. Treatment usually begins within a few weeks after the diagnosis. The choice of treatment depends on the type of thyroid cancer (papillary, follicular, medullary, or anaplastic), the size of the nodule, the age of the individual, and whether the cancer has spread. Cancer may be treated with surgery, thyroid hormone treatment, radioactive iodine therapy, external radiation therapy, or chemotherapy. Most individuals receive a combination of treatments.

PROGRESSION

Anaplastic Thyroid Carcinoma makes up about 2 percent of all thyroid cancers. Median survival is usually 4-5 months from the time of diagnosis.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: The diagnosis of anaplastic thyroid carcinoma is based on the pathology report from a thyroid biopsy specimen.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

13.09 A

Anaplastic Thyroid Carcinoma currently meets Listing 13.09 A

Medical Equals

URETER CANCER

DESCRIPTION

Ureter Cancer forms in transitional cells in the lining of the bladder, ureter, or renal pelvis. Transitional cells are cells that can change shape and stretch without breaking apart. Misuse of certain pain medications can affect the risk of developing transitional cell cancer of the renal pelvis or ureter.
Risk factors can include prolonged misuse of certain pain medications, smoking cigarettes, exposure to certain dyes and chemicals used in making leather goods, textiles, plastics and/or rubber.
Symptoms may include blood in the urine, persistent back pain, extreme fatigue, unintentional weight loss, and/or painful or frequent urination.

ALTERNATE NAMES

Metastatic Transitional Cell Carcinoma of the Ureter (Stage IV), Squamous Cell Cancer of the Ureter, Squamous Cell Carcinoma of the Ureter, Adenocarcinoma of the Ureter, Ureter Carcinoma

DIAGNOSTIC TESTING AND CODING

The following tests may be used to diagnose the disease: physical exam and history, urinalysis, ureteroscopy, urine cytology, intravenous pyelogram (IVP), CT scan, and/or ultrasound.

TREATMENT

If the cancer is inoperable or unresectable, treatment with radiation and/or chemotherapy may be utilized for palliation, but the prognosis is poor.

PROGRESSION

Ureter cancer usually affects men more often than women and is more common in people older than 65. The 5-year survival rate is 5% or less.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: A pathology report and an operative report are the preferred methods for documentation.
In the absence of these reports, the adjudicator may use a physician's opinion that indicates the cancer is inoperable or unresectable based on described objective findings.
“Inoperable” refers to a physician's opinion that surgery would not be beneficial based on a review of imaging studies, laboratory results, and physical examination findings. Unresectable cancer is established when the operative report indicates that the cancer is not completely removed or the pathology report notes that the surgical specimen has positive margins.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

13.21

Ureter Cancer that is inoperable, unresectable, recurrent, or with metastases meets Listing 13.21.

Medical Equals