Identification Number:
DI 23022 TN 33
Intended Audience:See Transmittal Sheet
Originating Office:ORDP ODP
Title:Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS)
Type:POMS Transmittals
Program:Title II (RSI),Title XVI (SSI),Disability
Link To Reference:
 

PROGRAM OPERATIONS MANUAL SYSTEM
Part DI – Disability Insurance
Chapter 230 – Special Issues
Subchapter 22 – Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS)
Transmittal No. 33, 08/28/2020

Audience

PSC: CS, DEC, DTE, IES, RECONR;
OCO-OEIO: CR, ERE, FCR, FDE, RECONE;
OCO-ODO: DE, DEC, DS, RECONE;
ODD-DDS: ADJ, DHU;

Originating Component

ODP

Effective Date

08/28/2020

Background

This is a QAT. No IRD is needed.

Summary of Changes

DI 23022.260 Ovarian Cancer

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information;

  • Added "Suggested Program Assessment" heading;

  • Merged "Suggested MER for Evaluation" with information below.

DI 23022.265 Pancreatic Cancer

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information;

  • Added a bulleted list to "Diagnostic testing" section

DI 23022.270 Peritoneal Mesothelioma

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information;

  • Updated punctuation of bulleted list in "Suggested MER for Evaluation"

DI 23022.275 Pleural Mesothelioma

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information;

  • Updated punctuation of bulleted list in "Suggested MER for Evaluation"

DI 23022.282 Prostate Cancer – Hormone Refractory Disease – or with Visceral Metastases

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information;

  • Updated spacing of bulleted lists in "Diagnostic testing" and "Physical findings" sections;

  • Updated punctuation of bulleted list in "Suggested MER for Evaluation"

DI 23022.286 Revesz Syndrome

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information;

  • Updated spacing of bulleted lists in "Diagnostic testing," "Physical findings," and "Suggested MER for Evaluation" sections;

  • Updated punctuation of bulleted list in "Suggested MER for Evaluation"

DI 23022.290 Salivary Cancers

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information

DI 23022.295 Sandhoff Disease

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information;

  • Revised title of second row to "Description";

  • Updated punctuation of bulleted list in "Suggested MER for Evaluation"

DI 23022.480 Patau Syndrome (Trisomy 13)

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information

DI 23022.483 Primary Peritoneal Cancer

  • Updated font of "PPC" to bold;

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information

DI 23022.485 Primary Progressive Aphasia

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information

DI 23022.585 Pulmonary Atresia

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information

DI 23022.590 Single Ventricle

  • Updated table style;

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information;

  • Revised "The listings" to "the listings" in note to adjudicators.

DI 23022.635 Paraneoplastic Pemphigus

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information

DI 23022.640 Primary Central Nervous System Lymphoma

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information;

  • Added "Physical findings" information to section using information copied from the "Description" section.

DI 23022.645 Primary Effusion Lymphoma

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information;

  • Added "Physical findings" information to section using information copied from the "Description" section.

DI 23022.650 Progressive Supranuclear Palsy

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information;

  • Added "Physical findings" information to section using information copied from the "Description" section.

DI 23022.655 Pulmonary Kaposi Sarcoma

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information;

  • Added "Physical findings" information to section using information copied from the "Description" section.

DI 23022.810 Skin Malignant Melanoma with Metastases

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information;

  • Updated spacing of bulleted lists in "Physical findings" and "Suggested MER for Evaluation" sections

DI 23022.855 Pearson Syndrome

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information;

  • Updated spacing of bulleted lists in "Diagnostic testing," "Physical findings," and "Suggested MER for Evaluation" sections

DI 23022.870 Peripheral Nerve Cancer – metastatic or recurrent

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information;

  • Updated spacing of bulleted lists in "Diagnostic testing" and "Suggested MER for Evaluation" sections

DI 23022.877 Pitt Hopkins Syndrome

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information

DI 23022.880 Rhabdomyosarcoma

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information;

  • Updated spacing of bulleted lists in "Description," "Physical findings," and "Suggested MER for Evaluation" sections;

  • Updated incorrect spelling in "Description" section

DI 23022.885 Rhizomelic Chondrodysplasia Punctata

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information;

  • Updated spacing of bulleted list in "Physical findings"

DI 23022.887 Richter Syndrome

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information

DI 23022.890 Schindler Disease -- Type I

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information;

  • Updated spacing of bulleted list in "Physical findings"

DI 23022.975 Peritoneal Mucinous Carcinomatosis

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information;

  • Updated spacing of bulleted list in "Physical findings"

DI 23022.979 Retinopathy of Prematurity - Stage V

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information;

  • Updated spacing of bulleted list in "Physical findings"

DI 23022.983 Severe Combined Immunodeficiency -- Childhood

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information;

  • Updated spacing of bulleted lists in "Diagnostic testing" and "Physical findings" sections;

DI 23022.985 Sinonasal Cancer

  • Added "ICD-10-CM" to section heading;

  • Added ICD-10 code information;

  • Updated spacing of bulleted lists in "Diagnostic testing" and "Physical findings" sections

DI 23022.260 Ovarian Cancer

COMPASSIONATE ALLOWANCE INFORMATION

OVARIAN CANCER (excluding Germ Cell)

ALTERNATE NAMES

Ovarian Epithelial Carcinoma; Ovarian Epithelial Cancer; Ovarian Carcinoma

DESCRIPTION

Ovarian Cancer forms in tissues of the ovary. Most ovarian cancers are either ovarian epithelial carcinomas or malignant germ cell tumors 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 it. 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.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The following may be used to diagnose the extent of disease: blood tests, urinalysis, GI series, exploratory laparoscopy, ultrasound, abdominal CT scan, and/or MRI of the abdomen. Diagnosis requires pathological evaluation of biopsy specimen or cytology specimen.

Physical findings: Common symptoms of Ovarian Cancer include:

  • Abdominal bloating;

  • Indigestion;

  • Nausea;

  • Changes in appetite;

  • Pressure in pelvis or lower back;

  • A frequent or urgent need to urinate;

  • Constipation;

  • Changes in bowel movements;

  • Increased abdominal girth;

  • Tiredness or low energy; and

  • Changes in menstruation.

ICD-9: 233.39, 795.82

ICD-10: C79.82

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.

TREATMENT

The prognosisTreatment 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.

SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • A pathology report and an operative report are the preferred methods for documentation.

  • Clinical note from a surgeon that the cancer is inoperable or unresectable.

  • Surgical pathology report that the cancer was not completely removed and that the surgical margins were positive for malignancy.

  • 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 13.23 E 1 b With metastases to or beyond the regional lymph nodes satisfies the criteria in 13.23 E 1 b.
Equals 13.23 E 1 a Ovarian Cancer that is inoperable or unresectable may equal the criteria in 13.23 E 1 a, as it has a similar prognosis to this listing.
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.265 Pancreatic Cancer

COMPASSIONATE ALLOWANCE INFORMATION

PANCREATIC CANCER

ALTERNATE NAMES

Exocrine Cancer; Pancreatic Adenocarcinoma; Pancreatic Carcinoma

DESCRIPTION

Pancreatic Cancer occurs when cells of the pancreas grow abnormally to form a tumor. The 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.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: To determine extent of 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;

  • MRI scan;

  • Ultrasonography: transabdominal ultrasound or endoscopic ultrasound (EUS), endoscopic retrograde cholangiopancreatography (ERCP), percutaneous transhepatic cholangiography (PTC), and laparoscopy.

Diagnosis is made on pathological review of a biopsy specimen.

Physical findings: 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.

ICD-9: 157.3, V18.11, V84.81

ICD-10: C78.89

PROGRESSION

Although rare, 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.

TREATMENT

Pancreatic Cancer may have several treatment options. Depending on the type and stage, before it has spread. However, other treatments may be able to control the disease and help patients and their doctors choose palliative therapy.

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 13.20 A & B Only pathology report is needed for adjudication.
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.270 Peritoneal Mesothelioma

COMPASSIONATE ALLOWANCE INFORMATION

PERITONEAL MESOTHELIOMA

ALTERNATE NAMES

Malignant Mesothelioma of the Peritoneum

DESCRIPTION

Peritoneal Mesothelioma is a rare cancer of the abdominal lining with about 600 cases per year in the United States. It is usually associated with asbestos exposure and regarded as universally fatal. Exposure to asbestos fibers can cause mesothelioma even years later. Working with asbestos or living with someone who works with asbestos is the major risk factor for mesothelioma.

DIAGNOSTIC TESTING, PHYSCIAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: 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.

Physical findings: Symptoms of Peritoneal Mesothelioma include:

  • Weight loss;

  • Abdominal pain and swelling due to a buildup of fluid in the abdomen,

  • Bowel obstruction,

  • Blood clotting abnormalities;

  • Anemia; and

  • Fever.

ICD-9: 158.8, 159, 159.8, 501, 789.51

ICD-10: C45.1

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.

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.

SUGGESTED PROGRAMMATIC ASSESSMENT *
Suggested MER for Evaluation:
  • CT-directed biopsy or peritoneoscopy; and

  • Pathology report confirming diagnosis of Peritoneal Mesothelioma.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets
Equals 13.15 A Peritoneal Mesothelioma may equal this listing based on diagnosis confirmed by biopsy.
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.275 Pleural Mesothelioma

COMPASSIONATE ALLOWANCE INFORMATION

PLEURAL MESOTHELIOMA

ALTERNATE NAMES

Malignant Mesothelioma of the Pleura

DESCRIPTION

Pleural Mesothelioma is a rare type of cancer where 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, pleural mesothelioma is still a relatively rare cancer. About 2,000 new cases of pleural mesothelioma are diagnosed in the United States each year. Pleural 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% to 80% of all cases. However, mesothelioma has been reported in some individuals without any known exposure to asbestos.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: 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. 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.

Physical findings: 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.

ICD-9: 501, 511.8, 511.81

ICD-10: C45.0

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.

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%.

SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • Biopsy; and

  • Pathology report confirming diagnosis.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 13.15 A Only pathology is required for adjudication.
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.282 Prostate Cancer – Hormone Refractory Disease – or with Visceral Metastases

COMPASSIONATE ALLOWANCE INFORMATION

PROSTATE CANCER - HORMONE REFRACTORY DISEASE

ALTERNATE NAMES

Jewett Stage D2 Prostate Cancer; Stage D2 Metastatic Prostate Cancer; Hormone Refractory Metastatic Prostate Cancer; Metastatic Castration-Resistant Prostate Cancer

DESCRIPTION

Prostate Cancer – Hormone Refractory Disease occurs when the cancer is recurrent (comes back despite hormonal intervention) or the cancer has spread to the bone or visceral organs (visceral metastases) such as the liver and lungs.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis and staging of prostate cancer requires:

  • Fine needle biopsy of a prostate mass;

  • Digital rectal examination (DRE);

  • Prostate Specific Antigen (PSA) blood test;

  • Transrectal (TRUS) ultrasound;

  • Radionuclide bone scans;

  • Computerized tomography (CT scan);

  • Magnetic Resonance Imaging (MRI);

  • ProstaScint Scan;

  • Lymph node biopsy; and

  • Laparoscopic biopsy.

Physical findings: People with advanced prostate cancer-hormone refractory disease may present with:

  • Blood in the urine;

  • Impotence;

  • Pain in the hips, back (spine), or chest (ribs);

  • Weakness or numbness in the legs or feet; and

  • Loss of bladder or bowel control.

ICD-9: 185

ICD-10: C61

PROGRESSION

The overwhelming majority of prostate cancers are diagnosed early and have an extremely high long-term survival rate. For those cancers diagnosed after the cancer has spread, the survival rate is much lower.

TREATMENT

The initial anticancer treatment for prostate cancer usually is –hormone therapy (for example, androgen). Refractory disease occurs when prostate cancer no longer responds to hormone therapy (that is, androgen-independent disease). Treatments for hormone refractory prostate cancer includeis chemotherapy, adrenal suppressants,immunotherapy drugs, and external beam radiation therapy (EBRT).

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Pathology report of biopsy findings;

  • Treatment notes indicating antineoplastic therapy; and

  • Surgery or imaging reports that document the spread or recurrence of prostate cancer.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.24 A or B

Listing-level criteria requires prostate cancer to be either: metastatic (Stage IV) to lung, liver, or other internal visceral organ (excluding bone metastases); or progressive or recurrent despite initial hormonal therapy. Prostate Cancer with visceral metastases meets the criteria in listing 13.24 B.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.286 Revesz Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

REVESZ SYNDROME

ALTERNATE NAMES

Revesz-DeBuse Syndrome; Revesz-Debuse Disease; Revesz Disorder; Exudative Retinopathy with Bone Marrow Failure; Exudative Retinopathy with Bone Marrow Failure and Cerebellar Hypoplasia

DESCRIPTION

Revesz Syndrome is a congenital disorder characterized by aplastic anemia (failure of the blood system) and retinopathy (degenerative disease of the retina), and anomalies in the central nervous system. This disorder has effects similar in severity and fatality to that of Hoyeraal-Hriedarsson Syndrome (see Hoyeraal-Hriedarsson impairment summary). This disorder usually presents in early childhood with signs of progressively worsening eye and balance problems; significant developmental delay and intellectual disability; and characteristic skin changes. Revesz Syndrome is caused by mutations in the TRF1-Interacting Nuclear Factor 2 (TINF2) and telomeres.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing : The diagnosis of Revesz syndrome is usually made on a clinical basis.

  • Laboratory blood testing includes complete blood counts (CBC);

  • Reticulocyte counts;

  • Hemoglobin electrophoresis;

  • Quantitative hemoglobin A2;

  • Quantitative hemoglobin F; and

  • Testing for the TINF2 gene establishes the genetic diagnosis.

Physical findings: Physical examination may reveal:

  • Excess fluid in the retina of the eye (exudative retinopathy);

  • Retinal detachment;

  • Retinitis pigmentosa;

  • Brain abnormalities that may lead to unsteadiness and balance problems (ataxia);

  • Delays in growth;

  • Hypopigmented sparse hair;

  • Tongue ulcers;

  • Atrophic nail changes;

  • Hypolastic anemia; and

  • Cerebral calcifications.

ICD-9: 759.89

ICD-10: Q13.89

PROGRESSION

Signs and symptoms of this disorder usually present in childhood between 5 and 15 years of age. Children develop symptoms of visual disturbances and balance problems. As the disease progresses severe vision loss and blindness may occur depending on the degree of retinal and vitreous disease. The overall prognosis for individuals with this disease is guarded, primarily as a result of bone marrow failure, infections, liver failure and lung failure.

TREATMENT

Treatment for this disorder is symptom specific and may require a multidisciplinary team of specialists. The treatment team would likely consist of a pediatrician, ophthalmologist, hematologist, dermatologist, and neurologist. The most serious consequence of this disease is bone marrow failure, and the only long-term cure has been with stem cell/bone marrow transplantation. Life-long medical monitoring is required for systemic and ocular disease.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Laboratory reports documenting hemoglobin levels and electrophoresis (rule out other hematologic disorders);

  • Iron studies to document iron overload or liver toxicity;

  • Genetic tests, such as HLA typing, may be done to evaluate for potential bone marrow transplantation, but are not required for diagnosis; and

  • Evidence measuring best corrected visual acuity or the extent of visual fields.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

102.02 A or B

Listing level severity must be documented; May need to evaluate under other affected body systems.

102.03 A, B or C

Listing level severity must be documented; May need to evaluate under other affected body systems.

102.04

Listing level severity must be documented; May need to evaluate under other affected body systems.

Equals

7.17

Listing level severity must be documented.

107.03

Listing level severity must be documented.

110.08 B

Listing level severity must be documented.

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.290 Salivary Cancers

COMPASSIONATE ALLOWANCE INFORMATION

SALIVARY CANCERS

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

DESCRIPTION

Salivary Cancers form 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 type of cancer that displays very aggressive metastatic behavior. Microscopically, the cancer 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.

DIAGNOSTIC TESTING, PHYSCIAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic Testing: Pathologic evaluation of tissue obtained by needle biopsy or surgery is the only way to determine salivary cancer. After a salivary cancer diagnosis, the extent of disease can be evaluated by various tests, which include MRI, CT scan, PET scan, ultrasound, and endoscopy.

Physical findings: Symptoms and physical findings in individuals with Adenosquamous Carcinoma of the Salivary Gland may include:

  • Swelling;

  • Visible changes in the mucosa including erythema, ulceration, and induration;

  • Pain frequently accompanying ulceration;

  • 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.

Adenosquamous Carcinoma of the Salivary Gland behaves aggressively with extensive infiltrating local disease as well as distant metastatic disease.

In Anaplastic Small Cell Carcinoma of the Salivary Glands, symptoms may include:

  • A fast-growing tumor, associated with pain in some cases;

  • Facial paralysis; and

  • Eating and chewing difficulties;

  • Tumors in the mouth that ulcerate and bleed.

ICD-9: 142

ICD-10: C08.9

PROGRESSION

Progression can be with local recurrence or distant metastases.

Anaplastic Small Cell Carcinoma of the Salivary Glands - 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 of the Salivary Gland - Limited data indicate that this is a highly aggressive neoplasm with a poor prognosis.

TREATMENT

Treatment can consist of surgery, radiation, and chemotherapy in various combinations depending on the clinical circumstances. Unfortunately, treatment for Anaplastic Small Cell Carcinoma of the Salivary Glands or Adenosquamous Carcinoma of the Salivary Gland is rarely curative.

SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • A pathology report on needle biopsy or surgical specimen showing Small Cell Carcinoma or Adenosquamous Carcinoma.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets
Equals 13.08 Adenosquamous Carcinoma of the Salivary Gland and Anaplastic Small Cell Carcinoma of the Salivary Gland equals the criteria in 13.08 because its poor prognosis is similar to the impairment in the listing.

Small Cell Adenosquamous Carcinoma of the Salivary Gland equals the criteria in 13.08 because its poor prognosis is similar to the impairment in the listing.

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.295 Sandhoff Disease

COMPASSIONATE ALLOWANCE INFORMATION

SANDHOFF DISEASE

ALTERNATE NAMES

Gangliosidosis GM2 type II; Gangliosidosis Beta Hexosaminidase B Deficiency; Hexosaminidases A and B Deficiency; Sandhoff-Jatzkewitz 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.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Positive gene testing confirms the diagnosis of this disease. A simple blood enzyme analysis test that measures HEXB activity can identify individuals and carriers of Sandhoff Disease.

Physical findings: 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, and

  • An enlarged liver and spleen.

ICD-9: 330.1

ICD-10: E75.01

PROGRESSION

Onset occurs by 6 months of age. 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.

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.
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;and

  • 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 110.08 B Catastrophic congenital abnormality or disease.
Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.480 Patau Syndrome (Trisomy 13)

COMPASSIONATE ALLOWANCE INFORMATION

PATAU SYNDROME

ALTERNATE NAMES

Trisomy 13; Trisomy 13 Syndrome; Complete Trisomy 13 Syndrome; D Trisomy 13 Syndrome; Bartholin-Patau syndrome; Patau’s Syndrome

DESCRIPTION

Patau syndrome is a genetic disorder in which all or a portion of chromosome 13 appears three times (trisomy) rather than twice in cells of the body. The extra material interferes with normal development, leading to severe intellectual disability and physical abnormalities in many parts of the body.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing:

  • Cardiac ultrasound may show arial septal defect, patent ductus arteriosus, and ventricular septal defect;

  • Gastrointestinal x-rays or ultrasound may show rotation of the colon; and

  • MRI or CT scans of the head may reveal a problem with the structure of the brain, where the two sides of the brain are joined (holoprosencephaly).

Physical findings:

  • Single umbilical artery at birth;

  • Abnormal placement of the heart toward the right side of the chest (dextroposition);

  • Arial septal defect;

  • Patent ductus arteriosus;

  • Ventricular septal defect;

  • Brain or spinal cord abnormalities;

  • Very small or poorly developed eyes (microphthalmia);

  • Extra fingers and/or toes (polydactyly);

  • An opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate); and

  • Weak muscle tone (hypotonia);

Many infants with this disorder fail to grow and gain weight at the expected rate (failure to thrive), have severe feeding difficulties, and experience pisodes in which there is temporary cessation of spontaneous breathing (apnea).

ICD-9: 758.1

ICD-10: Q91.7

PROGRESSION

Onset is congenital, with all of the physical abnormalities present at birth. The syndrome involves multiple abnormalities, many of which are not compatible with life. Due to the presence of several life-threatening medical problems, many infants with Patau syndrome die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year. Infants who survive to one year have severe complications including intellectual disability, seizures and failure to thrive.

TREATMENT

Medical management of children with Patau syndrome is planned on a case-by-case basis and depends on the individual circumstances of the infant.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical examination that describes diagnostic features of the impairment and laboratory studies are needed to confirm the diagnosis;

  • MRI or CT scan of the brain; and

  • Laboratory tests showing results of genetic testing (chromosomal analysis).

Suggested Listings for Evaluation:

DETERMINATION LISTING REMARKS

Meets

110.08

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.483 Primary Peritoneal Cancer

COMPASSIONATE ALLOWANCE INFORMATION

PRIMARY PERITONEAL CANCER

ALTERNATE NAMES

Primary Peritoneal Carcinoma; Primary Peritoneal Neoplasm; Primary Peritoneal Tumor; Primary Peritoneal Sarcoma; Serous Surface Papillary Carcinoma; Serous Surface Papillary Cancer; Serous Surface Papillary Sarcoma; Serous Surface Papillary Tumor; Serous Surface Papillary Neoplasm; Extra Ovarian Serous Carcinoma; Extra Ovarian Serous Cancer; Extra Ovarian Serous Neoplasm; Extra Ovarian Serous Tumor; Extra Ovarian Serous Sarcoma; Primary Serous Papillary Carcinoma; Primary Serous Papillary Cancer; Primary Serous Papillary Sarcoma; Primary Serous Papillary Tumor; Primary Serous Papillary Neoplasm

DESCRIPTION

Primary peritoneal cancer (PPC) is cancer that originates in the peritoneum, which is a moist sheet of tissue that lines the abdominal cavity and the surface of the abdominal organs. The peritoneum protects the organs and allows them to move smoothly within the abdomen. The cells of the peritoneum develop from the same type of cells, which form the ovaries, so PPC shares characteristics with ovarian cancer, and though rare PPC can occur in men. The exact cause of PPC is not known, but may be associated with the gene BRCA1/2 (also seen in ovarian cancer).

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of primary peritoneal cancer is made by:

  • History and physical exam;

  • Pelvic exam;

  • CA 125 Assay;

  • Ultrasound;

  • Computerized Tomography (CT/CAT) scan;

  • Positron Emission Tomography (PET) scan;

  • Magnetic Resonance Imaging (MRI);

  • Chest X-ray; and

  • Biopsy.

Physical findings: The signs and symptoms of primary peritoneal cancer may include:

  • Pain, swelling, or a feeling of pressure in the abdomen or pelvis;

  • Vaginal bleeding that is heavy or irregular, especially after menopause;

  • Vaginal discharge that is clear, white, or colored with blood;

  • Lump in the pelvic area; and

  • Gastrointestinal problems such as gas, bloating, or constipation

ICD-9: 158.8

ICD-10: Q91.7
PROGRESSION

The prognosis for individuals with primary peritoneal cancer is often poor. Median life expectancy is 1-2 years, with a range of 4 months to >5 years, the 5-year survival rate is about 26%.

TREATMENT

The presentation of PPC may be in the advanced stages at initial diagnosis, making curative treatment very difficult. Treatment may include surgery, radiation, and/or chemotherapy. The treatment of primary peritoneal cancer depends on the stage/grade of cancer; whether the patient has extra fluid in the abdomen that causes swelling; whether the cancer is unresectable, metastatic, or recurrent; changes in the BRACA1 or BRACA2 genes; and the patient’s age and general health.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:
  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Pathology/biopsy report of the cancer; and

  • Imaging reports such as CT scan, MRI scan; PET scan, and Ultrasound

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS

Meets

 

 

Equals

13.23 E

Primary peritoneal cancer, by definition equals 13.23E 1 a – extension to peritoneal surfaces.

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.485 Primary Progressive Aphasia

COMPASSIONATE ALLOWANCE INFORMATION

PRIMARY PROGRESSIVE APHASIA

ALTERNATE NAMES

PPA; Semantic Dementia; Aphasia, Primary Progressive; Primary Progressive Aphasia Syndrome

DESCRIPTION

Primary Progressive Aphasia (PPA) is a rare type of dementia characterized by slow and gradual loss of language (aphasia). It affects the language and the person’s ability to retain general world knowledge (semantic dementia) and eventually progresses to amnesia. PPA is a subdivision of Pick disease. Recent studies have concluded that individuals with PPA have a specific combination of prion gene variants, although this is not the primary cause of the disorder.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing :

  • Clinical exam;

  • Speech/language evaluation that examines word retrieval, sentence formulation, and auditory comprehension skills; and

  • MRI or CT scan of the brain demonstrating atrophy of the brain language areas or of the frontal and temporal lobes.

Exam : PPA symptoms vary, depending on which portion of the brain's language area is involved. The condition has three types, which cause different symptoms. The three types of PPA are:

  • Semantic variant;

  • Logopenic variant; and

  • Nonfluent-agrammatic variant.

Symptoms of semantic variant PPA include:

  • Having difficulty comprehending spoken or written language, particularly single words;

  • Having difficulty comprehending word meanings; and

  • Having difficulty naming objects.

Symptoms of logopenic variant PPA include:

  • Having difficulty retrieving words;

  • Frequently pausing in speech while searching for words; and

  • Having difficulty repeating phrases or sentences.

Symptoms of nonfluent-agrammatic variant PPA include:

  • Having difficulty forming words;

  • Being hesitant and halting in speech;

  • Making errors in speech sounds;

  • Having difficulty understanding sentences; and

  • Using grammar incorrectly.

ICD-9: 784.3

ICD-10: G31.09
PROGRESSION

Symptoms of PPA begin gradually, usually before the age of 65 years, and worsen over time. Individuals with PPA may become mute and eventually lose the ability to understand spoken or written language within 10 years of diagnosis.

TREATMENT

There is currently no effective treatment that can cure or slow the progression of PPA.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical examination that describes diagnostic features of the impairment;

  • Documentation of a clinically appropriate longitudinal medical history, speech-language assessment, neurological findings, and neuroimaging consistent with the diagnosis of PPA;

  • Speech/language assessment can determine the ability to express and comprehend oral and written messages:

    • A valid Total Language standard score that is at least 2 1/2 standard deviations below the mean on a comprehensive language test, such as the Oral and Written Language Scales, or

    • An Aphasia Quotient that is in the “severe” range on an aphasia battery such as the Boston Diagnostic Aphasia Examination or Western Aphasia Battery;

  • If the administration of a comprehensive language test or aphasia battery is not possible or speech-language testing is not available, a descriptive statement may be used. This statement should indicate that the claimant is either unable to follow a simple two-step direction without prompting or visual cues, or to spontaneously produce single words or two-word phrases, or both; and

  • Brain imaging (MRI or CT scan) documenting atrophy of fronto-temporal regions is necessary.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.04

12.02

Equals

11.04 A

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.585 Pulmonary Atresia

 

COMPASSIONATE ALLOWANCE INFORMATION

PULMONARY ATRESIA

ALTERNATE NAMES

Pulmonary valve atresia with intact ventricular septum; PA-IVS; Pulmonary valve atresia with ventricular septal defect; PA-VSD; Pulmonary atresia – intact ventricular septum; PA/IVS; Congenital heart disease – pulmonary atresia; Cyanotic heart disease – pulmonary atresia; Valve – disorder pulmonary atresia; Congenital Pulmonary Atresia

DESCRIPTION

Pulmonary atresia is a rare congenital heart disease in which the pulmonary valve does not form properly. The pulmonary valve is an opening on the right side of the heart that regulates blood flow from the right ventricle (right side pumping chamber) to the lungs. Because of this defect, blood from the right side of the heart cannot go to the lungs to pick up oxygen.

Pulmonary atresia may occur with or without a hole in the wall (septum) that separates the right ventricle and the left ventricle. The hole(s) in this wall is called a ventricular septal defect (VSD). If the infant does not have a VSD, the condition is called pulmonary atresia with intact ventricular septum (PA-IVS).

Infants born with this condition also tend to have multiple other cardiac conditions, such as poorly developed tricuspid valves, underdeveloped (hypoplastic) right ventricle, and abnormal blood vessels leading into the heart. Surgery is necessary shortly after birth to form a shunt from the systemic circulation to the pulmonary circulation in order to oxygenate the blood.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing:

  • Imaging studies;

  • Echocardiogram;

  • Electrocardiogram;

  • Heart catheterization; and

  • Pulse oximetry

Physical findings:

The physical findings for this condition include:

  • Bluish colored skin (cyanosis);

  • Fast breathing;

  • Fatigue;

  • Poor feeding during nursing;

  • Sweating during feeding; and

  • Shortness of breath.

 ICD-9: 746.01

ICD-10: Q22.0

TREATMENT

There are varying responses to treatment based on the severity of the defect. Infants are given medication (i.e. Prostaglandin) to help keep the blood vessel open between the pulmonary artery and the aorta (patent ductus arteriosis or PDA) until the initial shunt surgery can occur. Later, multi-staged surgeries to repair the vessel, open-heart surgery to repair or replace a pulmonary valve, reconstruction of the heart chambers, and heart transplant have been used to treat patients with this defect. Infants surviving into adulthood should be monitored by a cardiologist specializing in the care of adults with congenital heart disease to assess medication needs, surgery, and infection throughout their lifetime.

PROGRESSION

A diagnosis of pulmonary atresia is usually made shortly after birth. Disease progression is variable based on the severity of the congenital heart defect and the response to medication and surgical interventions.

Infants surviving into childhood and adults may develop problems with their heart functioning later in life due to congestive heart failure, angina, arrhythmias, cyanosis, and sudden death.

SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Operative reports;

  • Cardiology consultation reports;

  • Imaging studies; and

  • Electrocardiograms.

Suggested Listings for Evaluation:
DETERMINATION LISTING REMARKS
Meets 4.06

104.06

Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

    

DI 23022.590 Single Ventricle

COMPASSIONATE ALLOWANCE INFORMATION

SINGLE VENTRICLE

ALTERNATE NAMES

Common Ventricle; Common-Inlet Left Ventricle; Double-Inlet Left Ventricle; Double-Inlet Ventricle; Single Ventricle Congenital Heart Defect; DILV; Univentricular Heart; Univentricular heart of the left ventricular type; Congenital heart defect – DILV; Cyanotic heart defect – DILV; Birth defect – DILV

DESCRIPTION

Single Ventricle defect is a rare congenital heart defect in which a child is born with only one ventricle that is capable of pumping blood; it may also be associated with other congenital heart defects such as transposition of the great arteries and aortic obstruction. Staged surgery is usually started in the first week of life. Subsequent surgeries maybe required. As the person with a single ventricle ages, potential health problems that develop include complaints of heart rhythm disturbances such as faster than normal heart (tachycardia), atrial flutter, slow heart rate (bradycardia), congestive heart failure, liver and biliary dysfunction, and fluid retention in the abdomen and lower extremities. These individuals are of greater risk for weakening and failing heart muscle, and for developing blood clots. They also have greatly diminished exercise tolerance, and do not grow well.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing:

  • Imaging studies;

  • Electrocardiogram (ECG);

  • Echocardiogram (ultrasound of the heart); and

  • Cardiac catheterization.

Physical findings: Physical findings associated with a single ventricle include:

  • Features of cyanosis (blue tint to skin and nail beds);

  • Heart rhythm problems;

  • Fluid retention;

  • Blood clots; and

  • Weakening of the heart muscle.

ICD-9: 746.9

ICD-10: Q20.4

TREATMENT

The surgical treatment of single ventricle is based on the severity of the condition. Infants are usually treated with staged surgical intervention beginning in the first week of life. The first procedure is called a shunt. The shunt helps to increase blood flow to the lungs. Subsequent surgeries may be warranted to adjust blood flow to the lungs and to create connections between the veins and the lung arteries. Blood clotting may be a feature of this disease and may require monitoring and anticoagulation therapy. Other health problems are common and require life-long monitoring by a cardiologist trained in the care of congenital heart disease.

PROGRESSION

A diagnosis of a single ventricle defect is usually made shortly after birth. Most children with a single ventricle who have survived to adulthood have had at least one operation to repair the ventricle. Response to surgery varies depending on many factors, including the specific defect and the age at which the child undergoes surgery.

SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Operative reports;

  • Cardiology consultation reports;

  • Imaging testing (MRI and X-ray); and

  • Blood study coagulation reports can be used to assess blood clots.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 4.02

4.06

104.06

Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

      

 

DI 23022.635 Paraneoplastic Pemphigus

COMPASSIONATE ALLOWANCE INFORMATION

PARANEOPLASTIC PEMPHIGUS

ALTERNATE NAMES

PNP; Paraneoplastic Autoimmune Multi-organ Syndrome

DESCRIPTION

Paraneoplastic Pemphigus (PNP) is a rare disease that demonstrates many of the clinical and laboratory findings of pemphigus vulgaris. It occurs in individuals who have concurrent cancers such as non-Hodgkin’s lymphoma, chronic lymphocytic leukemia, and Castleman disease. The binding of antibodies to the surface of the cells of the outer layer of skin (epidermis) causes pemphigus. When the disease involves the airways, it can cause fatal respiratory disease.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: There is no single test to confirm a diagnosis of PNP. Because PNP is a rare disease of the skin, a dermatologist is consulted to diagnose and treat this disease. The dermatologist will document the appearance and location of the blisters. Direct immunofluorescence (on skin or mucosal biopsies) and indirect immunofluorescence (on blood) are done to identify the antibodies and the type of pemphigus causing the skin blisters. While a tumor is essential in the diagnosis, people with tumors other than lymphoproliferative neoplasm can develop paraneoplastic pemphigus. These include thymoma, sarcoma, and lung carcinoma.

Physical findings: PNP is characterized by severe ulceration (blistering) of the mouth, lips, skin, and may involve the esophagus, conjunctiva, and other mucous membranes.

ICD-9: 694.4

ICD-10: L10.81

PROGRESSION

Men and women are equally affected by PNP. Research suggests a genetic predisposition for the disease. PNP can occur in adults and children ranging in age from 7 to 76 years of age. The average age of onset in adults is between 50-60 years of age. In children, paraneoplastic pemphigus is often the presenting sign of Castleman disease, and an increased incidence of bronchiolitis obliterans is evident. PNP is often fatal.

TREATMENT

The primary goals of treatment in PNP are to treat malignancy, to decrease blister formation and to promote healing of lesions. Immunosuppressive therapies control the disease. Prescribed corticosteroid medication like prednisone and immunosuppressive drugs like azathioprine treat the blistering. Complete removal of the tumor may improve the skin disease, but damage to the lungs may be irreversible. The major causes of death for people with PNP are respiratory failure and infections.

SUGGESTED PROGRAMMATIC ASSESSMENT*
Suggested MER for Evaluation:
  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Dermatology and oncology consultation reports documenting disease progression and response to treatment; and

  • Laboratory testing reports documenting paraneoplastic pemphigus serum antibody screen, and results of biopsies are needed to confirm the diagnosis.

Suggested Listings for Evaluation:
DETERMINATION LISTING

REMARKS

Meets 8.03

108.03

Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.640 Primary Central Nervous System Lymphoma

COMPASSIONATE ALLOWANCE INFORMATION

PRIMARY CENTRAL NERVOUS SYSTEM LYMPHOMA

ALTERNATE NAMES

PCNSL; Primary CNS Lymphoma; Reticulum Cell Sarcoma; Diffuse Histiocytic Lymphoma; Brain Lymphoma; Cerebral Lymphoma; Primary Lymphoma of the Central Nervous System; Lymphoma-Brain

DESCRIPTION

Primary Central Nervous System Lymphoma (PCNSL) is a rare cancer that involves the central nervous system (brain or spinal cord), and/or the coverings of the brain (meninges). It is a non-Hodgkin B-cell lymphoma that typically stays within the central nervous system (CNS) and rarely metastasizes (spreads outside) of the CNS. PCNSL and HIV are strongly associated with co-infection of Epstein-Barr virus (EBV). Symptoms and signs of PCNSL vary, depending on the area of the brain that is involved and include severe headaches, changes in speech, personality changes, confusion, memory problems, drowsiness, muscle weakness, and numbness in the extremities. Some people have seizures. People with eye involvement report seeing floating spots (floaters), and gradual vision loss.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Diagnosis of PCNSL involves clinical examination, brain imaging, cerebrospinal fluid (CSF) cytology, and infrequently brain tissue biopsy. Clinical evaluation may include a neurological examination or ophthalmologic examination. Imaging includes brain MRI or CT scan. The tumor often presents as a solitary ring- enhancing lesion located in the cerebral hemisphere; however, it could present as multiple lesions located in other areas of the brain. If the eye is involved, a biopsy is taken from the eye (vitrectomy or choroid/retinal biopsy). The definitive diagnosis of PCNSL is documented by CSF cytology or by brain biopsy.

Physical findings:

  • Severe headaches;

  • Changes in speech;

  • Personality changes;

  • Confusion;

  • Memory problems;

  • Drowsiness;

  • Muscle weakness and numbness in the extremities;

  • Seizures;

  • Seeing floating spots; and

  • Gradual vision loss

ICD-9: 200.5

ICD-10: C72.9

PROGRESSION

PCNSL affects all age groups, but is most commonly diagnosed in people who are over age 50 and people with very low CD4 counts (generally <50 cells/µL) . The survival of untreated PCNSL is under 2 months from the time of presentation. A combination of chemotherapy and radiation therapy may increase survival to about 44 months.

TREATMENT

Treatment options are dependent on factors such as the person’s age and general health; stage of cancer; location of the tumor in the central nervous system; and the activity of the tumor (i.e. recurrent or metastatic). Corticosteroids are prescribed to reduce brain swelling caused by the tumor. Multiple therapies such as chemotherapy, high dose chemotherapy with stem cell transplant and radiation are used in the treatment of PCNSL. Surgery is not used to treat primary CNS lymphoma because of the infiltrative nature of the tumor and the fact that the tumor usually involves several structures within the brain.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Documentation of HIV infection, CSF cytology report, or tissue biopsy report;

  • Clinical description of findings;

  • Neurological or ophthalmological examination report(s); and

  • CT scan or MRI report.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

14.11

114.11

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.645 Primary Effusion Lymphoma

COMPASSIONATE ALLOWANCE INFORMATION
PRIMARY EFFUSION LYMPHOMA

ALTERNATE NAMES

PEL; Body Cavity Lymphoma; Body Cavity-Based Lymphoma; AIDS – Related Lymphoma

DESCRIPTION

Primary Effusion Lymphoma (PEL) is a rare form of B-cell (non-Hodgkin) lymphoma. PEL originates from body cavities such as pleural space or pericardium (both are in the chest), and peritoneum (located in the abdomen. Signs and symptoms of PEL result from buildup of fluid in the affected cavity. Depending on which cavity is involved, these symptoms can include shortness of breath, chest pain, and abdominal distention. This fluid build-up leads to lung, heart, or gastrointestinal organ dysfunction, respectively. PEL is more prevalent in immunodeficient people. The majority of people diagnosed with PEL have been seropositive for human immunodeficiency virus (HIV positive) for a number of years or have AIDS.

DIAGNOSTIC TESTING, PHYSCIAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Diagnosis is made by cytological examination of samples of fluid removed from the pleural, pericardial, or peritoneal spaces. PEL can also be diagnosed by surgical excision of the involved tissues or by biopsy of the body cavity lining.

Physical findings: Signs and symptoms of PEL result from buildup of fluid in the affected cavity. Depending on which cavity is involved, these symptoms can include:

  • Shortness of breath;

  • Chest pain;

  • Abdominal distention; and

  • Lung, heart, or gastrointestinal organ dysfunction

ICD-9: 200.8

ICD-10: C83.8

PROGRESSION

PEL is an aggressive non-Hodgkin lymphoma. The prognosis of primary effusion lymphoma is very poor with a median survival after diagnosis of 2 – 3 months without treatment and about six months with treatment. Chemotherapy is often of short duration. Mortality of people with PEL is frequently associated with opportunistic infection, HIV related complications, and progression of cancer.

TREATMENT

There currently is no cure for primary effusion lymphoma. Treatment depends on the age and general health of the person and the specific type and staging of the disease at the time of diagnosis. Treatments include HAART (Highly Active Anti-retroviral Therapy), chemotherapy, and stem cell transplantation.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Documentation of HIV infection, cytology reports of effusion fluid, or pathology reports of biopsied body cavity lining tissue;

  • Clinical description of findings;

  • Reports showing the detection of HHV-8 and EBV; and

  • CT scan reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

14.11

114.11

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.650 Progressive Supranuclear Palsy

COMPASSIONATE ALLOWANCE INFORMATION

PROGRESSIVE SUPRANUCLEAR PALSY

ALTERNATE NAMES

Richardson-Steele-Olszewski syndrome; Steele-Richardson-Olszewski syndrome; Richardson Syndrome; Nuchal Dystonia Dementia Syndrome; Progressive Supranuclear Ophthalmoplegia; Supranuclear Palsy-Progressive; PSP

DESCRIPTION

Progressive supranuclear palsy (PSP) is a rare progressive brain disorder that affects movement, gait, eye movements, speech, and cognition. The signs and symptoms are very different in each person, but may include personality changes, difficulty swallowing, jaw or face spasms, vision problems, loss of balance, frequent falls, problems with walking, poor coordination, and an unsteady, lurching gait. PSP primarily involves damage to the brain stem (the area of the brain that controls breathing, heartbeat, blood pressure, eye movement, and other autonomic functions) and the frontal lobes of the brain (the area of the brain that is associated with reasoning, planning, speech, movement, emotions, and problem solving). The most obvious sign of PSP is an inability to focus the eyes properly, which occurs because of lesions in the area of the brain that coordinates eye movements. People with PSP often show alterations of mood and behavior, including depression and apathy as well as progressive mild dementia. PSP usually occurs in people over 60 years of age, and men are affected more often than women are. Additional features of the disorder includes a general loss of interest and enthusiasm (apathy) an increasing need for assistance with personal care and other activities of daily living.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of PSP involves:

  • A clinical examination;

  • An evaluation of memory;

  • Assessment of balance and gait;

  • Evaluation of ocular movements with attention on the ability to move the eyes up and down;

  • Hearing assessment and evaluation of voluntary muscle movement; and

  • MRI of the brain.

PSP is often misdiagnosed because some of its symptoms are similar to Parkinson’s disease, Alzheimer disease and Creutzfeldt-Jakob disease. The key to properly diagnosing PSP is identifying early gait instability and difficulty moving the eyes. Neurological examinations may show uncontrollable eye movement, mild dementia, and visual difficulties with the inability to look up or down without bending the neck.

Physical findings: Signs and symptoms of PSP include:

  • Difficulty swallowing;

  • Jaw or face spasms;

  • Vision problems;

  • Loss of balance;

  • Frequent falls;

  • Problems with walking;

  • Poor coordination; and

  • An unsteady, lurching gait.

ICD-9: 333.0

ICD-10: G23.1
PROGRESSION

PSP is slowly progressive with a decline in brain dysfunction over time. Initially, the motor and eye movement abnormalities are the major impairments, but as the disease progresses, cognitive and behavioral manifestations may become significant. In advance cases, the person with PSP may become wheel chair dependent or bedridden. Individuals with PSP are also at risk of pneumonia, choking from swallowing problems and injuries from falling.

TREATMENT

There is no effective cure for this disorder. Drugs such as L-dopa, Amantadine, Amitriptyline, and Desipramine are prescribed to control symptoms. Speech therapy can provide instruction in swallowing techniques. Communication devices such as pointing boards or computer-based systems can be used when speech becomes ineffective. Walking devices can help to minimize falls.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination describing symptoms, signs, laboratory findings, and response to treatment;

  • Full neurological examination with emphasis on motor function and coordination, gait and balance, eye movements and gaze, and cognitive function;

  • Speech and language examination describing speech difficulties, low voice volume, slow speech, and poor ability to speak clearly (enunciate); and

  • Assessment of swallowing abilities.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.17

Equals

11.06

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

 

DI 23022.655 Pulmonary Kaposi Sarcoma

COMPASSIONATE ALLOWANCE INFORMATION

PULMONARY KAPOSI SARCOMA

ALTERNATE NAMES

Pulmonary KS; PKS

DESCRIPTION

Kaposi Sarcoma (KS) is a cancerous tumor of the connective tissue involving blood and lymphatic vessels. KS is often associated with AIDS (Acquired Immune Deficiency Syndrome). When KS occurs in the lungs, it is referred to as Pulmonary Kaposi Sarcoma (KS) or Kaposi’s sarcoma with pulmonary involvement. Pulmonary KS grows as sheets of tumor tissue in the peribronchial and perivascular interstitial spaces. Symptoms and signs of pulmonary KS include dyspnea (difficulty breathing), fever, non-productive cough, and hemoptysis (coughing up blood). Complications of pulmonary Kaposi sarcoma include respiratory failure caused by airway obstruction, parenchymal involvement, pleural effusion, or pulmonary edema from lymphangitic obstruction.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Chest CT and MRI may show findings suggestive of pulmonary KS, but the definitive diagnosis is obtained by bronchoscopy showing characteristic lesions. Transbronchial biopsy or open lung biopsy may be necessary if findings on bronchoscopy are inconclusive.

Physical findings: Symptoms and signs of pulmonary KS include:

  • Dyspnea (difficulty breathing);

  • Fever;

  • Non-productive cough;

  • Hemoptysis (coughing up blood);

  • Respiratory failure caused by airway obstruction;

  • Parenchymal involvement;

  • Pleural effusion; or

  • Pulmonary edema from lymphangitic obstruction.

ICD-9: 176.4

ICD-10: C46.50

PROGRESSION

Survival for pulmonary KS is variable (between 4 to 19 months) after it is first diagnosed. Related deaths are usually due to upper airway obstruction or parenchymal destruction.

TREATMENT

Chemotherapy in combination with antiretroviral therapy is used to treat pulmonary KS. Radiation therapy has also been used in cases where there is intolerance to chemotherapy. Radiation is also used to treat symptomatic airway obstruction.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Documentation of HIV infection; and

  • Clinical description of findings, imaging, pathology report of biopsied tissue, and laboratory studies.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

14.11

114.11

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.810 Skin Malignant Melanoma with Metastases

 

COMPASSIONATE ALLOWANCE INFORMATION

SKIN MALIGNANT MELANOMA

ALTERNATE NAMES

Cutaneous Melanoma; Metastatic Melanoma of the Skin; Skin Malignant Melanoma; Malignant Melanoma

DESCRIPTION

Skin Malignant Melanoma is a lethal form of skin cancer that may develop anywhere on a person’s body. It most often develops in areas that have had exposure to the sun, such as the back, neck, legs, arms, and face. However, it may occur in areas that do not receive much sun exposure, such as the soles of feet, palms of hands, and on fingernail beds. Skin Malignant Melanoma with Metastases occurs when the malignant tumor spreads to other parts of the body.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: A treating source may detect melanoma simply by looking at a person’s skin. However, a definitive diagnosis of malignant melanoma is a biopsy. After diagnosis, CT scans or other types of imaging may be done to determine if the cancer has spread to the lymph nodes or elsewhere in the body.

Physical findings: Individuals with skin malignant melanoma may present with:

  • Unusual moles, sores, lumps, blemishes, markings, or changes on the skin;

  • Sores that do not heal;

  • Spread of pigment from the border of a spot into surrounding skin;

  • Redness or a new swelling beyond the border of a mole;

  • Changes in sensation on the skin, such as itchiness, tenderness, or pain; and

  • Changes in the surface of the mole/skin such as itchiness or painful sensations, bleeding, scabs, crusty, inflammation, thickening of the skin, firm/raised center of a mole or spot on the skin, scaliness, oozing, bleeding, or the appearance of a lump or bump.

ICD-9: 172.0 - 172.9

ICD-10: C43

PROGRESSION

The most dangerous aspect of malignant melanoma is its ability to spread (metastasize) to other parts of the body. Metastasis most often includes local or distant lymph nodes, brain, lungs, liver, and bone. The risk of developing malignant melanoma increases with age; however, it is also seen in young adults and children over 10 years of age. Survival rates are related to the stage of the melanoma. In its most advanced and lethal stage (Stage IV), melanoma has spread to the lymph nodes or organs, and is often incurable

TREATMENT

Treatment for early-stage melanoma usually includes surgery to remove the melanoma. Surgery represents the only potentially curative modality; therefore, adequate excision is important to lessen the risk of a local recurrence. Even if a local recurrence after initial surgery can be successfully managed, individuals with this condition may die from subsequent metastatic disease. Treatment of recurrent malignant melanoma after initial treatment depends on the stage of the original melanoma, the prior treatment, and the site of recurrence, and may include chemotherapy, immunotherapy, or radiation.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Pathology and biopsy reports of the cancer; and

  • CT scan, MRI scan, or ultrasound reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.29 B 1

Skin malignant melanoma meets the criteria in listing 13.29 B 1 if it has metastases to clinically apparent lymph nodes; to at least four lymph nodes that are not clinically apparent; or to adjacent skin (for example, satellite lesions) or distant sites (for example, liver, lung, or brain).

13.29 B 2

Skin malignant melanoma meets the criteria in listing 13.29 B 2 if it has metastases to clinically apparent lymph nodes; to at least four lymph nodes that are not clinically apparent; or to adjacent skin (for example, satellite lesions) or distant sites (for example, liver, lung, or brain).

13.29 B 3

Skin malignant melanoma meets the criteria in listing 13.29 B 3 if it has metastases to clinically apparent lymph nodes; to at least four lymph nodes that are not clinically apparent; or to adjacent skin (for example, satellite lesions) or distant sites (for example, liver, lung, or brain).

113.29 B 1

Skin malignant melanoma meets the criteria in listing 113.29 B 1 if it has metastases to clinically apparent lymph nodes; to at least four lymph nodes that are not clinically apparent; or to adjacent skin (for example, satellite lesions) or distant sites (for example, liver, lung, or brain).
113.29 B 2 Skin malignant melanoma meets the criteria in listing 113.29 B 2 if it has metastases to clinically apparent lymph nodes; to at least four lymph nodes that are not clinically apparent; or to adjacent skin (for example, satellite lesions) or distant sites (for example, liver, lung, or brain).

113.29 B 3

Skin malignant melanoma meets the criteria in listing 113.29 B 3 if it has metastases to clinically apparent lymph nodes; to at least four lymph nodes that are not clinically apparent; or to adjacent skin (for example, satellite lesions) or distant sites (for example, liver, lung, or brain).

Equals

13.29 B

Cutaneous melanoma with a tumor thickness greater than 4 mm, up to 8 mm, medically equals 13.29 B if ulceration is present and the mitotic rate is equal to or greater than 5 mitoses/mm2. Cutaneous melanoma with a tumor thickness greater than 8 mm and a mitotic rate equal to or greater than 5 mitoses/mm2 medically equals 13.29 B, even if ulceration is not present.

113.29 B

Cutaneous melanoma with a tumor thickness greater than 4 mm, up to 8 mm, medically equals 113.29 B if ulceration is present and the mitotic rate is equal to or greater than 5 mitoses/mm2. Cutaneous melanoma with a tumor thickness greater than 8 mm and a mitotic rate equal to or greater than 5 mitoses/mm2 medically equals 113.29 B, even if ulceration is not present.
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.855 Pearson Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

PEARSON SYNDROME

ALTERNATE NAMES

Pearson Marrow Pancreas Syndrome; Sideroblastic Anemia with Marrow Cell Vacuolization and Exocrine Pancreatic Dysfunction; Pearson Anemia

DESCRIPTION

Pearson Syndrome is a type of rare inherited multisystem disorder caused by mitochondrial mutations, leading to progressive bone marrow failure and pancreas dysfunction. This results in severe anemia, variable low platelet and neutrophil counts, pancreatic insufficiency, and poor growth. Associated features may include insulin-dependent diabetes, muscle and neurological involvement, and liver and kidney dysfunction. The diagnosis of Pearson syndrome is usually made in the first year of life.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: A confirmed diagnosis is documented by molecular genetic analysis showing deletions in mitochondrial DNA. Other lab studies include:

  • Bone marrow analysis;

  • Complete blood cell and reticulocyte counts; and

  • Metabolic studies including electrolytes, lactic acid, bilirubin, and albumin.

Physical findings:

  • Poor growth/failure to thrive;

  • Hepatosplenomegaly (enlarged liver and spleen); and

  • Pallor (pale skin).

ICD-9: 277.87

ICD-10: D64.0

PROGRESSION

Most children with Pearson syndrome die in infancy or early childhood due to bacterial sepsis resulting from neutropenia, metabolic crisis, or hepatic failure. The few persons surviving into adulthood often develop Kearns-Sayre syndrome, a rare neuromuscular disorder.

TREATMENT

There is no specific treatment for Pearson syndrome. Treatment is supportive and symptomatic. Chronic red blood transfusions are required to treat anemia. Neutropenia may be treated with colony stimulating factor. Pancreatic enzyme replacement treats malabsorption due to exocrine pancreatic insufficiency.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment; and

  • Results of molecular genetic analysis showing deletions in mitochondrial DNA.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

107.10

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.870 Peripheral Nerve Cancer – metastatic or recurrent

COMPASSIONATE ALLOWANCE INFORMATION

PERIPHERAL NERVE CANCER

ALTERNATE NAMES

Malignant Peripheral Nerve Sheath Tumor; Malignant Neurilemmoma; MPNST; Malignant Schwannoma; Malignant Tumor of the PNS; Malignant Neoplasm of the PNS; Malignant PNS Tumor; Malignant PNS Neoplasm; Neurosarcoma; Neurogenic Sarcoma; Malignant Neuroma

DESCRIPTION

Peripheral Nerve Cancer is a rare malignant tumor that develops in the tissue (sheath) covering the peripheral nerves. The peripheral nervous system includes the nerves that travel from the brain and spinal cord (central nervous system) to other parts of the body. The nerve sheath is the soft tissue that covers the nerve. This type of cancer occurs most commonly along the nerves that run from the buttocks to the legs (sciatic nerves), neck to the arms or within the pelvis. Peripheral Nerve Cancer that is metastatic or recurrent indicates that the malignant tumor has spread to other parts of the body, and has come back after treatment. This type of cancer generally occurs in adulthood between the ages of 20 and 50 years of age and may occur in childhood. Survival rates for metastatic and recurrent disease are poor, regardless of patient age.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Diagnostic testing for peripheral nerve cancer include:

  • MRIs;

  • X-rays;

  • CT scans;

  • PET scans; and

  • Bone scan to determine the location, size, and shape of the tumor and metastasis.

The only definitive diagnosis of peripheral nerve cancer is a biopsy of the tumor.

Physical findings: Most peripheral nerve cancers do not present with neurological symptoms.

ICD-9: 237.7, 237.9

ICD-10: C47

PROGRESSION

Peripheral nerve cancers are highly aggressive tumors. The prognosis for people with unresectable tumors (tumors that cannot be surgically removed) is poor. Survival rates vary depending on the location and extent of the tumor, including any metastasis.

TREATMENT

Malignant peripheral nerve cancers are aggressive tumors that require a combination of surgery, chemotherapy or radiation. Complete resection of the tumor carries the longest survival rate.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • A pathology report of the tumor biopsy and of any metastasis; and

  • If a pathology report is unavailable, a surgical report or radiological studies especially X-rays, MRI scans, CT scans, or PET scans may be substituted.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.13 B

Primary adult peripheral nerve cancer meets the criteria in listing 13.13 B and requires documented metastases or recurrence.

Equals

113.13 C

Primary pediatric peripheral nerve cancer medically equals the criteria in 113.13 C and requires documented metastases or recurrence.

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.877 Pitt Hopkins Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

PITT HOPKINS SYNDROME

ALTERNATE NAMES

Pitt Hopkin Syndrome; Pitt Hopkins Disease; and Pitt Hopkin Disease

DESCRIPTION

Pitt-Hopkins syndrome is a rare genetic disorder caused by mutations in the TCF4 gene. Intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features characterize the disorder. People with Pitt-Hopkins syndrome typically do not develop speech; some may learn to say a few words. Many affected individuals exhibit features of autistic spectrum disorders, which are characterized by impaired communication and socialization skills.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of Pitt Hopkins syndrome is made by:

  • Physical examination and history;

  • Electroencephalography (EEG);

  • Magnetic Resonance Imaging (MRI); and

  • Genetic testing showing TCF4 gene mutations.

Physical findings: The signs and symptoms of Pitt Hopkins syndrome may include:

  • Low muscle tone (hypotonia);

  • Developmental delays;

  • Small head size (microcephaly);

  • Behavioral characteristics such as: feeding difficulties, aggressive outbursts, anxiety, hand biting, head banging, stereotypical hand or head movements;

  • Distinctive facial features;

  • Breathing problems such as episodes of rapid breathing (hyperventilation), followed by episodes of struggling to breathe or not breathing;

  • Seizures;

  • Sleep disturbances;

  • Eye or vision problems such as nearsightedness (myopia); eye misalignment (strabismus); and astigmatism;

  • Gastrointestinal problems; and

  • Skeletal features such as flat feet, clubfoot, small hands and feet; broad fingertips or tapered fingers; bent or curved fingers, and overlapping toes.

ICD-9: 758.89

ICD-10: Q99.8

PROGRESSION

Pitt Hopkins syndrome affects both males and females and can affect individuals of any ethnic or racial background. People with Pitt Hopkins syndrome survive into adulthood, but continue to have severe cognitive and communication impairments. Pitt Hopkins syndrome is thought to be a very rare condition. Approximately 500 affected individuals have been reported worldwide.

TREATMENT

There is currently no cure for this disorder. Management of Pitt Hopkins syndrome includes the treatment of seizures; physical and occupational therapies to improve adaptive functioning; and speech therapy with focus on non-verbal methods of communication. School age children require individualized and flexible instructional curricula. Dietary/nutritional consultation is used to better manage constipation and other gastrointestinal issues.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:
  • Clinical history, examination, and laboratory testing that describe the diagnostic features of the impairment; and

  • Developmental assessment or psychological testing to address allegations of mental impairment may be warranted.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets 11.02

 

11.17

12.05

12.14

111.02

112.05

112.14

Equals
* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.880 Rhabdomyosarcoma

COMPASSIONATE ALLOWANCE INFORMATION

RHABDOMYOSARCOMA

ALTERNATE NAMES

Alveolar Rhabdomyosarcoma; Embryonal Rhabdomyosarcoma; Sarcoma Botryoides

DESCRIPTION

Rhabdomyosarcoma is a cancerous tumor of unknown cause that occurs mostly in children and teenagers. It grows in the soft tissues of the body, particularly in the muscles that attach to bone and help the body to move. The most common sites for this tumor include the head, neck, bladder, vagina, arms, leg, and trunk. Rhabdomyosarcoma can also be found in places where skeletal muscles are absent or very small, such as in the prostate, middle ear and bile duct system. Symptoms include tumors that may lead to bleeding, congestion, swallowing problems, neurological problems, eye and vision problems, urination or bowel problems, and movement abnormalities.

Determining the severity of the condition is based on clinical groups and stages. There are 4 clinical groups:

  • I,

  • II,

  • III, and

  • IV.

Groups I, II, and III may have evidence of spread to lymph nodes but none to distant sites. Group IV has spread to lymph nodes and distant sites.

There are 4 stages: Stages I, and II, do not have evidence of spread to lymph nodes or distant sites. Stage III has local lymph node involvement and Stage IV has spread to distant lymph nodes or distant sites.

Group IV, Stage IV is the most severe. It has the lowest survival rate. Rhabdomyosarcoma is much more common in children than adults.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing : Diagnosis is often delayed because of a lack of symptoms or physical findings, and because the tumor may appear at the same time as a recent injury. A complete physical examination should be done.

Tests include:

  • Biopsy of tumor;

  • X-rays;

  • CT scan of tumor site and chest (to look for spread of tumor);

  • PET scan; bone scan;

  • Bone marrow biopsy;

  • MRI of tumor site;

  • Blood and urine tests; and

  • Spinal tap (lumbar puncture) to check the cerebrospinal fluid.

Physical findings: Symptoms of rhabdomyoscarcoma may include:

  • Headache;

  • A tumor or mass that can be seen or felt (may or may not be painful);

  • Bleeding from the nose, ears, vagina, rectum, or throat (may occur if the location of the tumor is in these areas);

  • Tingling, numbness, pain, and movement may be affected if the tumor compresses nerves in the area;

  • Protrusion of the eye or a drooping eyelid (may indicate a tumor behind the eye);

  • Trouble urinating and blood in the urine; and

  • Difficulty with bowel movements.

ICD-9: 171.9

ICD-10: C49.9

PROGRESSION

Rhabdomyosarcoma usually occurs in two distinct groups: children age five and under, and adolescents 14-20 years of age. Generally, children with Stage IV rhabdomyosarcoma have a 5-year survival rate of 20 to 25%. Survival rates for Stages I, II, and III are much higher (60 to 90%). While aggressive treatment is usually necessary, most children with rhabdomyosarcoma will achieve long-term survival. Treatment may include surgery, chemotherapy, radiation, and stem cell (bone marrow) transplant.

TREATMENT

The specific type of tumor, its size, its location, and the amount that it has spread determines the type of treatment for rhabdomyosarcoma. Clinical group and stage (described in “Description”) determine the type of treatment. Rhabdomyosarcoma that continues to grow during treatment or that comes back once treatment is finished is often resistant to subsequent treatment.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical examination;

  • Biopsies;

  • Imaging tests;

  • Surgical notes;

  • Pertinent treatment records; and

  • Up-to-date progress notes.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.04

Rhabdomyosarcoma in adults, the criteria in listing 13.04 is met with evidence of regional or distal metastases, or persistent or recurrent following initial antineoplastic therapy.

113.03

Rhabdomyosarcoma of any grade in children meets the criteria in listing 113.03.

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.885 Rhizomelic Chondrodysplasia Punctata

COMPASSIONATE ALLOWANCE INFORMATION

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA

ALTERNATE NAMES

RCDP; RCP; Chondrodysplasia Punctata Rhizomelic; Rhizomelic Chondrodysplasia Punctata Classic Type; Rhizomelic Chondrodysplasia Punctata Type 1; RCDP1; Rhizomelic Chondrodysplasia Punctata Type 2; RCDP2; Rhizomelic Chondrodysplasia Punctata Type 3; RCDP3

DESCRIPTION

Rhizomelic Chondrodysplasia Punctata (RCDP) is a rare, inherited disorder that results in congenital skeletal abnormalities with shortening of proximal long bones, distinctive facial features, intellectual disability, and recurrent respiratory problems. Painful joint contractures, poor growth, cataracts developing in infancy, hearing loss, and seizures also occur frequently. Most children with this condition do not achieve developmental milestones such as sitting without support, feeding themselves, or speaking in phrases.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis is confirmed by biochemical or genetic testing of the gene mutation resulting in abnormal enzyme activity:

  • Type 1 -- peroxisomal enzyme function, including red blood cell concentration of plasmalogens (deficient), plasma concentration of phytanic acid (elevated), and plasma concentration of very long chain fatty acids (VLCFA) (normal) (PEX7);

  • Type 2 -- glyceronephosphate O-Acyl transferase (GNPAT);

  • Type 3 -- alkyldihydroxyacetonephosphate synthase (AGPS).

Physical findings:

  • Developmental delays;

  • Growth failure;

  • Cataracts;

  • Midface hypoplasia (prominent forehead, widely set eyes, sunken appearance of the middle of the face, small nose with upturned nostrils, and full cheeks);

  • Shortening of bones in upper extremities and femurs; and

  • Joint contractures.

ICD-9: 277.86

ICD-10: E71.540

PROGRESSION

Most survive only into childhood; it is rare for an affected child to live past age 10. Death is usually caused by recurrent respiratory infections.

TREATMENT

There is no current cure for RCDP. Treatment is supportive and many include physical therapy, anti-seizure medication, hearing amplification, and cataract removal.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes diagnostic features of the impairment;

  • Genetic testing to confirm the diagnosis; and

  • Development assessment or psychological testing to address allegations of mental impairment.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 B

 

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.887 Richter Syndrome

COMPASSIONATE ALLOWANCE INFORMATION
RICHTER SYNDROME

ALTERNATE NAMES

Richter Disease; Richter Transformation; Richter’s syndrome; Richter’s Disease; Richter’s Transformation

DESCRIPTION

Richter syndrome (RS) is a rare type of non-Hodgkin lymphoma. This condition occurs when chronic lymphocytic leukemia (CLL) transforms into a fast growing aggressive type of lymphoma, most commonly diffuse large B-cell lymphoma. (DLBCL). The risk of developing RS depends on the genetic mutations in the CLL cell; clinical characteristics; biologic and genetic features of the CLL B-cell clone; and therapy for progressive CLL.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Diagnostic testing for individuals with Richter syndrome includes:

  • Blood chemistry studies;

  • Computerized Tomography (CT/CAT) scan;

  • Positron Emission Tomography (PET) scan;

  • Magnetic Resonance Imaging (MRI);

  • Bone marrow aspiration; and

  • Biopsy.

Physical findings: The signs and symptoms of Richter syndrome may include:

  • Increased size of lymph nodes (lymphadenopathy);

  • Painless swelling in the neck, axilla, abdomen, spleen (splenomegaly) or groin; and

  • Unexplained weight loss, fevers and night sweats (commonly referred to as B-symptoms) .

Other signs and symptoms may include:

  • Increased fatigue;

  • Shortness of breath;

  • Dizziness;

  • Palpitations;

  • Low Platelets with characteristic bruising or bleeding;

  • Increase in serum lactate dehydrogenase (LDH); and

  • Elevated serum calcium (hypercalcemia).

ICD-9: 200.7

ICD-10: C85.90

PROGRESSION

RS indicates the transformation of CLL into an aggressive lymphoma. The median age of occurrence is between 61 years and 70 years. People with CLL are at increased risk of developing a second malignant neoplasm such as cancers of the lung, brain, eye, and malignant melanoma. The median time to occurrence of CLL to RS is 1.8 to 5 years after diagnosis. Approximately 2% to 10% of people who have chronic lymphocytic leukemia develop Richter transformation. Prognosis is very poor with survival generally less than 1 year.

TREATMENT

Richter syndrome lymphoma is treated with the same chemotherapy drugs used for all other aggressive lymphomas, such as chemotherapy, radiation therapy, or antibody or biological therapy. RS is not very responsive to any of the available treatments.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:
  • Clinical history and examination that describes the diagnostic features of the impairment;

  • CT, MRI, or PET scan reports;

  • Pathology/Biopsy reports of the cancer;

  • Surgical procedures; and

  • Up-to-date progress reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

 

 

Equals

13.05 D

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.890 Schindler Disease -- Type I

COMPASSIONATE ALLOWANCE INFORMATION

SCHINDLER DISEAS -- TYPE I

ALTERNATE NAMES

Neuroaxonal Dystrophy Schindler type; Alpha-N-Acetylgalactosaminidase Deficiency Type 1; NAGA Deficiency Type 1; Alpha NAGA Deficiency Schindler Type; Schindler Disease Type 1 Infantile Onset; Schindler Disease Infantile Type; Schindler Disease Classic Form

DESCRIPTION

Schindler Disease -- Type I is a rare inherited neurodegenerative disorder that is caused by mutations in the NAGA gene. The abnormal activity of the NAGA gene causes intracellular accumulations of glycoproteins and glycolipids and eventual cell death. The most affected organ is the central nervous system. Schindler Disease -- Type 1 is the most severe type of this disorder and has an infantile onset.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Blood cells or skin biopsies document reduced or absent NAGA enzyme activity.

Physical findings:

  • Neurodevelopmental regression;

  • Profound intellectual disability;

  • Nystagmus (uncontrolled eye movements);

  • Visual impairment; and

  • Hypotonia (floppy muscle tone) that later evolves into muscle hypertonicity and rigidity.

ICD-9: 271.8

ICD-10: E74.9

PROGRESSION

Infants with this disease have normal physical development during the first months of life after which they experience developmental regression beginning at 8 – 15 months. Worsening muscle tone and decreased movement, vision loss and seizures may become evident as the disease progresses.

TREATMENT

There is no current cure for this disease. Treatment is supportive.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment; and

  • Laboratory findings with decreased activity of alpha-NAGA

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 B

 

Equals

 

 

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator

DI 23022.975 Peritoneal Mucinous Carcinomatosis

COMPASSIONATE ALLOWANCE INFORMATION

PERITONEAL MUCINOUS CARCINOMATOSIS

ALTERNATE NAMES

Primary Peritoneal Surface Malignancy; Invasive Peritoneal Mucinous Carcinomatosis

DESCRIPTION

Peritoneal Mucinous Carcinomatosis is a rare type of cancer that affects the lining of the abdominal cavity called the peritoneum. It occurs when cancer cells from other parts of the body, such as the appendix, colon, gall bladder, liver, rectum, or pancreas, metastasize and implant into the lining of the peritoneum. It is a common feature of abdominal cancers that are in the terminal stage.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: CT scan showing thickening of the peritoneum and ascites.

Physical findings: Clinical features of this disease include:

  • Ascites;

  • Abdominal swelling;

  • Constipation;

  • Gastrointestinal disorders;

  • Nausea;

  • Vomiting;

  • Anorexia; and

  • Unexplained weight loss.

ICD-9: 197.6

ICD-10: C48.2

PROGRESSION

The prognosis for people with this disease is poor because spread of multiple cancerous nodules from other organs to the peritoneum occurs in the late stages of the disease.

TREATMENT

Peritoneal mucinous carcinomatosis is an advanced form of cancer that is treated aggressively to prevent the cancer from spreading further. Treatment typically includes surgical debulking followed by chemotherapy.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Imaging such as X-ray, CT or MRI scan reports of the peritoneum;

  • Biopsy report of the peritoneum; and

  • Tumor marker tests of blood indicating the presence of peritoneal cancer.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.16 B

Any affected primary abdominal cancer listing requiring metastases beyond the regional lymph nodes meets the criteria in listing 13.16 B. Listing level severity must be documented.

13.17

Any affected primary abdominal cancer listing requiring metastases beyond the regional lymph nodes meets the criteria in listing 13.17. Listing level severity must be documented.

13.18

Any affected primary abdominal cancer listing requiring metastases beyond the regional lymph nodes meets the criteria in listing 13.18. Listing level severity must be documented.

13.27

Any affected primary abdominal cancer listing requiring metastases beyond the regional lymph nodes meets the criteria in listing 13.27. Listing level severity must be documented.

Equals

13.15 B

 

Any affected listing for sites other than primary abdominal cancers involved by primary peritoneal carcinoma, including 13.15 B for men.

13.23 E 1

Any affected listing for sites other than primary abdominal cancers involved by primary peritoneal carcinoma, including 13.23 E 1 for women.

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.979 Retinopathy of Prematurity - Stage V

COMPASSIONATE ALLOWANCE INFORMATION

RETINOPATHY OF PREMATURITY - STAGE V , BILATERAL

ALTERNATE NAMES

ROP Stage V; Retinopathy of Prematurity Type V; Retrolental Fibroplasia

DESCRIPTION

Retinopathy of Prematurity (ROP) is abnormal blood vessel development in the retina of very low birth weight premature infants. ROP occurs when abnormal blood vessels grow and spread throughout the retina, and the tissue that lines the back of the eye. These abnormal blood vessels are fragile and can leak blood, scarring the retina and pulling it out of position. There are five stages of ROP, with Stage V being the most severe due to complete retinal detachment causing visual impairment and blindness.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: Complete ophthalmologic eye examination, including the diagnostic retinal staging of ROP with total retinal detachment.

Physical findings: Symptoms of ROP include:

  • Scarring and/or dragging of the retina;

  • Retinal detachment;

  • Bleeding inside the eye (vitreous hemorrhage); and

  • Blindness.

ICD-9: 362.27

ICD-10: H35.109

PROGRESSION

Infants with Stage V ROP have total retinal detachment with very poor visual prognosis.

TREATMENT

Surgical treatment options for advanced ROP include laser treatments, cryotherapy, “scleral buckle” (which requires later procedures to remove the inserted silicon band), and vitrectomy.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features and physical findings; and

  • Pediatric ophthalmological examination indicating total retinal detachment.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

102.02 A or B

Findings must be bilateral.

102.03 A or B or C

Findings must be bilateral.

102.04 A or B

Findings must be bilateral.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.983 Severe Combined Immunodeficiency -- Childhood

COMPASSIONATE ALLOWANCE INFORMATION

SEVERE COMBINED IMMUNODEFICIENCY - CHILDHOOD

ALTERNATE NAMES

Pediatric Severe Combined Immunodeficiency; X-Linked SCID; Adenosine Deaminase Deficiency; ADA-SCID; Classical X-linked SCID; Bubble Boy Disease

DESCRIPTION

Severe Combined Immunodeficiency (SCID) is a life-threatening syndrome of recurrent infections, chronic diarrhea, dermatitis, and failure to thrive (FTT). SCID is an inherited immune system disorder characterized by defects in T-cells, B-cells, and sometimes natural killer (NK) cells. Although there are multiple genetic mutations that may result in various immune deficiencies, the childhood form of SCID is by far the most severe.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing :

  • Lymphocyte function tests;

  • B-cell, T cell, and NK cell levels;

  • Immunoglobin levels (IgG, IgM, IgA, IgE); and

  • Genetic testing to identify the specific mutation(s) resulting in the immunodeficiency.

Physical findings : Infants and children with SCID have:

  • Recurrent, severe infections (respiratory, meningitis, sepsis);

  • Rashes that look like eczema;

  • Chronic diarrhea;

  • Oral thrush; and

  • Failure to thrive (FTT).

ICD-9: 279.2

ICD-10: D81.9

PROGRESSION

SCID usually presents within the first few months of life with failure to thrive, recurrent and hard to treat severe infections (pneumonia, gastrointestinal infections, sepsis), recurrent or persistent thrush, chronic diarrhea, and absent lymph nodes. Without immune reconstitution treatment such as bone marrow transplantation, children with SCID generally die before age 3.

TREATMENT

Children with SCID may be treated with antimicrobial prophylaxis, immunoglobulin replacement, and gene therapy. Transplantation of stem cell/bone marrow is the most effective treatment. Standard care for children with SCID includes isolation to avoid infection and meticulous skin and mucosal hygienic care while immune reconstitution.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment and laboratory findings (see above) are needed to confirm the diagnosis; and

  • Documentation of bone marrow/stem cell transplantation.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

114.07 A or B

If received transplant, follow guidance of 114.07 B.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022.985 Sinonasal Cancer

COMPASSIONATE ALLOWANCE INFORMATION

SINONASAL CANCER

ALTERNATE NAMES

Sinonasal Malignancy; Sinonasal Undifferentiated Carcinoma; SNUC; Highly Aggressive Undifferentiated Carcinoma of the Nasal Cavity and Paranasal Sinuses

DESCRIPTION

Sinonasal Cancer is a rare aggressive cancer of the nasal cavity or the paranasal sinuses that mostly occurs in older individuals (over 55 years). This cancer is often confused with other poorly differentiated carcinomas that begin in the sinonasal tract.

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The following tests are used to diagnos SNUC:

  • Immunohistochemistry of biopsy;

  • MRI or CT scans;

  • PET scan;

  • Electron microscopy; and

  • Molecular biologic studies.

Physical findings: Physical findings may include:

  • A mass on the nasal cavity;

  • Nasal discharge (bloody or runny nose);

  • Nasal obstruction;

  • Difficulty breathing through the nasal cavity;

  • Pressure in the mid-face;

  • Double vision (diplopia);

  • Proptosis (forward displacement of the eye);

  • Chronic infections; and

  • Eye papilledema (swelling of the optic disc).

ICD-9: 160.0 – 160.9

ICD-10: C30.0

PROGRESSION

People with sinonasal malignancy usually present with advanced stage tumors following a rapid onset of symptoms. The prognosis of SNUC is poor once the cancer invades the skull and brain. Survival after treatment with chemotherapy and radiation is generally less than one year.

TREATMENT

By the time this type of cancer is diagnosed, the tumor is usually clinically advanced and surgically unresectable. Treatment for sinonasal cancers involves multimodal therapy including surgical resection, and adjuvant therapy (i.e. chemotherapy, and radiation).

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment;

  • Pathology report documenting type and stage of tumor;

  • Operative reports; and

  • MRI or CT scans.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.02 A, B,C, D, or E

Listing level severity must be documented.

Equals

* Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.

DI 23022 TN 33 - Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS) - 8/28/2020