Identification Number:
DI 23022 TN 31
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:All Programs
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. 31, 08/20/2020

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

Upon Receipt

Background

OMP is updating 23022 POMS to ensure consistency and correct guidance throughout the POMS section. This is a QAT - no IRD or AC approval needed. (AO 40305.011)

Summary of Changes

DI 23022.350 Alstrom Syndrome

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

  • Added "ICD-10" code information

DI 23022.355 Amegakaryocytic Thrombocytopenia

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

  • Added "ICD-10" code information

DI 23022.370 Bilateral Retinoblastoma

  • Updated table style;

  • Added bulleted list to "Diagnostic testing" section;

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

  • Added "ICD-10" code information

DI 23022.375 Cri du Chat Syndrome

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

  • Added "ICD-10" code information

DI 23022.380 Degos Disease - Systemic

  • Updated table style;

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

  • Added "ICD-10" code information

DI 23022.395 Fibrodysplasia Ossificans Progressiva

  • Updated table style;

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

  • Added "ICD-10" code information

DI 23022.540 Aortic Atresia

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

  • Added "ICD-10" code information

DI 23022.545 Eisenmenger Syndrome

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

  • Added "ICD-10" code information

DI 23022.550 Endomyocardial Fibrosis

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

  • Added "ICD-10" code information

DI 23022.580 Cardiac Amyloidosis - AL Type

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

  • Added "ICD-10" code information;

  • Updated spacing of bulleted list in "Diagnostic testing";

  • Updated spacing of bulleted list in "Physical findings"; and

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

DI 23022.921 Adult Non-Hodgkin Lymphoma

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

  • Added "ICD-10" code information;

  • Updated spacing of bulleted list in "Description";

  • Updated spacing of bulleted list in "Diagnostic testing";

  • Updated spacing of bulleted list in "Physical findings"; and

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

DI 23022.927 Alveolar Soft Part Sarcoma

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

  • Added "ICD-10" code information;

  • Updated spacing of bulleted list in "Diagnostic testing"; and

  • Updated spacing of bulleted list in "Physical findings"

DI 23022.929 Aplastic Anemia

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

  • Added "ICD-10" code information; and

  • Updated spacing of bulleted list in "Physical findings"

DI 23022.931 Beta Thalassemia Major

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

  • Added "ICD-10" code information;

  • Updated spacing of bulleted list in "Diagnostic testing"; and

  • Updated spacing of bulleted list in "Physical findings"

DI 23022.933 Bilateral Optic Atrophy - Infantile

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

  • Added "ICD-10" code information

DI 23022.939 Congenital Lymphedema

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

  • Added "ICD-10" code information;

  • Updated spacing of bulleted list in "Diagnostic testing"; and

  • Updated spacing of bulleted list in "Physical findings"

DI 23022.943 Dravet Syndrome

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

  • Added "ICD-10" code information

DI 23022.945 Endometrial Stromal Sarcoma

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

  • Added "ICD-10" code information; and

  • Updated spacing of bulleted list in "Physical findings"

DI 23022.951 Fryns Syndrome

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

  • Added "ICD-10" code information; and

  • Updated spacing of bulleted list in "Physical findings"

DI 23022.953 Fulminant Giant Cell Myocarditis

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

  • Added "ICD-10" code information; and

  • Updated spacing of bulleted list in "Physical findings"

DI 23022.350 Alstrom Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

ALSTROM SYNDROME

ALTERNATE NAMES

ALMS; ALMS1; Alstrom-Halgren Syndrome; Alstrom syndrome 1; Alström syndrome; Alstrom’s syndrome; AS

DESCRIPTION

Alstrom syndrome is a rare condition that affects many body systems. Alstrom syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy), obesity, type 2 diabetes (the most common form of diabetes), and short stature. This disorder can also cause serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs. Some individuals with Alstrom syndrome have a skin condition called acanthosis nigricans, which causes the skin in body folds and creases to become thick, dark, and velvety. The signs and symptoms of Alstrom syndrome vary in severity, and not all affected individuals have all of the characteristic features of the disorder. Alstrom syndrome is caused by mutations of the ALMS1 gene (2p13.1).

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

Diagnostic testing: The diagnosis of Alstrom syndrome is made based on the clinical findings (signs and symptoms), medical history, and family history. Making a diagnosis is complicated by the variation in age of symptom onset from one individual to another. Genetic testing is not necessary to make the diagnosis of Alstrom syndrome, although it can be useful to confirm a diagnosis.

Other diagnostic tests include:

  • Vision tests;

  • Hearing tests;

  • Heart function testing;

  • Blood and urine testing for liver dysfunction and renal failure; and

  • Blood sugar levels to diagnose hyperglycemia, thyroid function, and triglyceride levels.

Physical findings: Individuals with Alstrom syndrome may have:

  • Cone-rod dystrophy;

  • Hearing loss;

  • Childhood truncal obesity;

  • Insulin resistance and hyperinsulinemia;

  • Type 2 diabetes;

  • Hypertriglyceridemia;

  • Short stature in adulthood;

  • Cardiomyopathy; and

  • Progressive pulmonary, hepatic, and renal dysfunction.

ICD-9: 759.89

ICD-10: Q89.8
PROGRESSION

Alstrom syndrome causes serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs. Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life. Some children may experience delays in attaining developmental milestones, but intelligence is usually unaffected. Not all affected individuals have all of the characteristic features of the disorder.

Individuals with this condition are likely to develop:

  • Deafness,

  • Blindness,

  • Complications from diabetes,

  • Worsening of kidney and liver function, and

  • Developmental delays.

TREATMENT

There is no cure for this condition. There is treatment for the symptoms of diabetes, hearing and visual aids, heart medications, and thyroid hormone replacement.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Blood and urine tests;

  • Thyroid function studies;

  • Eye examinations;

  • Hearing examinations; and

  • Genetic testing.

Suggested Listings for Evaluation:

DE T ERMINATION

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 23022.355 Amegakaryocytic Thrombocytopenia

COMPASSIONATE ALLOWANCE INFORMATION

AMEGAKARYOCYTIC THROMBOCYTOPENIA

ALTERNATE NAMES

Inherited Bone Marrow Failure Syndrome; IBMFS; Congenital Amegakaryocytic Thrombocytopenia; CAMT; AAT; Acquired pure megakaryotic aplasia; Thrombocytopenia congenital amegakaryotic

DESCRIPTION

Amegakaryocytic Thrombocytopenia is a rare, inherited bone marrow failure syndrome (IBMFS) in young children where the bone marrow fails to produce platelets or megakaryocytes. This causes the child’s blood not to clot if he or she starts bleeding. Over time, the bone marrow may also cease making red blood cells and neutrophils. Mutation of the gene Amega (MPL) is the cause of the disease. Clinical manifestations including petechiae (tiny purplish, red spots of bleeding into the skin), bruising, and bleeding, usually beginning at birth or within the first year of life.

About half of the people with IBMFS have characteristic physical findings including neurologic and cardiac anomalies. Over time, complete failure of the bone marrow to produce other blood products (aplastic anemia) also occurs in nearly half of the children. The diagnosis of this syndrome is usually made by 1 month of age. Males and females are equally affected. Some people are at risk for developing leukemia (cancer in the blood forming tissue of bone marrow).

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

Diagnostic testing: Definitive diagnostic lab testing includes MPL analysis (genetic testing); bone marrow aspirate, and biopsy specimens showing normal cellularity, with markedly reduced or absent megakaryocytes. Laboratory studies are needed to confirm the diagnosis.

Physical findings: Individuals with this condition may have:

  • Bruising;

  • Bleeding, which can be life threatening; and

  • Petechiae (tiny red dots under the skin that are a result of very small bleeds into the skin).

Children with CAMT can also have:

  • Central nervous system abnormalities;

  • Delays of psychomotor development;

  • Cardiac defects; and

  • Other rare malformations.

ICD-9: 287.33

ICD-10: D69.6
PROGRESSION

Onset begins within the first month of life. Life-threatening complications include:

  • Thrombocytopenic bleeding;

  • Aplastic anemia; and

  • Malignant myeloid leukemia.

TREATMENT

Stem cell transplant remains the only curative treatment for this disorder. Only small fractions of people have a suitable sibling transplant donor. Children with this disorder are treated with platelet transfusions.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Laboratory tests showing results of chromosomal and gene analysis.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

107.10

Disorders of bone marrow failure

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 23022.370 Bilateral Retinoblastoma

COMPASSIONATE ALLOWANCE INFORMTION

BILATERAL RETINOBLASTOMA

ALTERNATE NAMES

Malignant Neoplasm, Retina; Glioma Retinal; Rb; RB; Glioma, retinal

DESCRIPTION

Bilateral Retinoblastoma is a disease that results in malignant tumors that form in the tissues of the retinas of both eyes in children under age 6, with most children with this disease diagnosed between the ages of 1-2 years. Retinoblastoma is the most common intraocular malignancy of infancy and childhood; with an incidence of 1/15,000-20,000 live births. Retinoblastoma is bilateral in about 40% of cases. Bilateral and multifocal unilateral forms are usually hereditary in nature and are caused by mutations in the RB1 gene. The tumors can spread to the eye socket through the optic nerve and may spread to the brain, lungs, and bones.

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

Diagnostic testing: The diagnosis of bilateral retinoblastoma is made by:

  • Examination of the eyes with dilation of the pupils;

  • CT scan or MRI scan of the head to evaluate tumors and possible spread to the brain; and

  • Ultrasound of the eyes (head and eye echoencephalogram).

Physical finding s: The most typical finding is a whitening of the pupils, the so-called "cat's eye reflex" (leukocoria). In addition, the eyes may be misaligned so that they appear crossed (strabismus). The eyes may become red and painful and glaucoma may occur because the fluid from the eyes cannot drain properly. Other signs and symptoms may include soreness or swelling of the eyelids; and blindness or poor vision in both eyes.

ICD-9: 190.5

ICD-10: C69.2

TREATMENT

Treatment options depend upon the size and location of the tumors. Small tumors are treated by laser surgery. Radiation and chemotherapy may be needed if the tumors have spread beyond the eyes.

PROGRESSION

The likelihood of a cure for Bilateral Retinoblastoma is lower than the unilateral type (which may be cured by chemotherapy and radiation or removal of the eye) and depends on how the tumors have spread. If the tumors spread to the brain, the prognosis is almost uniformly fatal.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Operative reports;

  • Pathology report;

  • Biopsy reports; and

  • Imaging studies.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

113.12

The treatment for retinoblastoma usually results in a visual impairment. Evaluate any resulting visual impairment using the visual listings.

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 23022.375 Cri du Chat Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

CRI DU CHAT SYNDROME

ALTERNATE NAMES

5p- Syndrome; Cat's Cry Syndrome; Cat Cry Syndrome; Le Jeune Syndrome; Chromosome 5p- Syndrome; 5p deletion syndrome; Monosomy 5p; 5p minus syndrome; Chromosome 5p deletion syndrome; CdCS

DESCRIPTION

Cri du Chat syndrome is a hereditary chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a kitten or cat cry. The disorder is characterized by intellectual disability and delayed development, low birth weight, and failure to thrive. There are several distinctive physical features present such as small head, low-set ears, wide-set eyes, small jaw and partial webbing or fusing of fingers and toes, weak motor skills and muscle tone. Some children with cri-du-chat syndrome are also born with cardiac defects, scoliosis and cleft palates. Destructive behavior, self-mutilation and aggression are common.

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

Diagnostic testing: The diagnosis of Cri du Chat is generally made in the hospital at birth. Testing used to make the diagnosis include:

  • Genetic tests showing a partial deletion of chromosome 5p;

  • Florescence In Situ Hybridization (FISH) analysis showing chromosome deletion; and

  • A skull x-ray revealing an abnormal angle to the base of the skull.

Physical findings: The clinical symptoms of this impairment include:

  • A high-pitched cat-like cry;

  • Intellectual and developmental delays;

  • Distinctive facial features;

  • Small head size (microcephaly);

  • Wide-spaced eyes (hypertelorism);

  • Inguinal hernia, separation of the muscles in the belly area (diastasis recti);

  • Extra fold of skin over the inner corner of the eye (epicanthal folds);

  • Problems with the folding of the outer ears; and

  • Low birth weight and weak muscle tone (hypotonia) in infancy.

ICD-9 : 758.31

ICD-10: Q93.4

PROGRESSION

The outcome varies, but intellectual disability is usual. Half of those children affected learn sufficient verbal skills to communicate. The cat-like cry becomes less apparent over time.

TREATMENT

No specific treatment is available for this condition. The intellectual disability must be addressed, and counseling is recommended for the parents/caregivers.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical examination that describes diagnostic features of the impairment;

  • Developmental assessment or psychological testing to address allegations of mental impairment;

  • X-rays showing skeletal abnormalities; and

  • Results of chromosome testing (karyotyping).

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 B

This condition involves multiple body systems, and is expressly included in 110.08 B. A description of clinical findings and laboratory findings will be needed to adjudicate this case.

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 23022.380 Degos Disease - Systemic

 

COMPASSIONATE ALLOWANCE INFORMATION

DEGOS DISEASE - SYSTEMIC

ALTERNATE NAMES

Degos-Kohlmeier Disease; Degos Syndrome; Kohlmeier-Degos Disease; Malignant Atrophic Papulosis; MAP; Kohlmeier disease; Papulosis Atrophican Maligna; Degos’s Malignant Atrophic Papulosis; Atrophic Papulosis, malignant

DESCRIPTION

Degos disease is a rare non-inflammatory disease of the blood vessels that is characterized by a narrowing and blockage in small and medium sized arteries, leading to ischemia and tissue infarction in the involved organ systems. Skin lesions are the characteristic feature of Degos disease. Blood vessels that supply blood to the skin, gastrointestinal tract, central nervous system, and organs such as the eyes, kidneys, heart, and liver can also be involved. Immune system dysregulation may be a key driver in Degos disease development.

The disease occurs in two stages. Stage 1, which involves skin lesions that may last for weeks to years and Stage 2, which involves lesions of the intestines and other organs. In the first stage, individuals will notice red lesions that leave scars with white centers. These lesions can result in bowel ischemia, chronic skin lesions, ocular lesions, strokes, spinal lesions, mononeuritis multiplex (inflammation of several separate nerves), epilepsy, headaches, or cognitive disorders. In the second stage, the more lethal multi-organ variant form, individuals begin to complain of abdominal pain, diarrhea, and/or weight loss. The intestinal lesions are known to break through the wall of the bowels (perforation), thus leading to a potentially life threatening complication (sepsis). At Stage 2, the disease is usually fatal within 2 or 3 years. The disorder usually occurs in young adults, mostly affecting men. The cause of this disease is unknown.

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

 

Diagnostic testing: The diagnosis of systemic Degos disease is made by:

  • Physical examination;

  • Identification of characteristic findings (e.g. skin lesions);

  • CT/ MRI scan; and

  • Microscopic examination of affected skin tissue that reveals distinctive changes to the tissue.

Physical findings: Degos disease is characterized by:

  • Erythematous pink or red papules on the skin (skin lesions);

  • Lesions in the gastrointestinal tract when there is gastric involvement; and

  • Lesions with central porcelain-white atrophy and surrounding teleangiectatic rim.

ICD-9 : 447.8

ICD-10: I77.89

TREATMENT

Treatment options are limited, consisting mainly of antiplatelet drugs, anticoagulants or immunosuppressants. The effect of treatment is limited to case reports.

PROGRESSION

Systemic Degos disease is frequently fatal within 2-3 years from the onset of systemic involvement.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Dermatology consultation that evaluates the ability of the individual to adjust to the reduced oxygen carrying capacity of blood;

  • Laboratory tests measuring blood composition; and

  • MRI/CT scans.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

 

 

Equals

14.03

Degos disease is not a vasculitis, it is an occlusive arteriopathy. Therefore, it can not meet listing 14.03. The relative effectiveness of eculizumab, a hematologic medication which blocks complement component 5 (C5) suggests it may be a hematologic/endothelial/clotting disease. Along with the skin, organ and body systems most commonly affected include gastrointestinal, neurologic, cardiac, and pulmonary. Constitutional symptoms or signs often include fatigue, persistent fever, and involuntary weight loss.

114.03

The relative effectiveness of eculizumab, a hematologic medication which blocks complement component 5 (C5) suggests it may be a hematologic/endothelial/clotting disease. Along with the skin, organ and body systems most commonly affected include gastrointestinal, neurologic, cardiac, and pulmonary. Constitutional symptoms or signs often include fatigue, persistent fever, and involuntary weight loss.

* 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 23022.395 Fibrodysplasia Ossificans Progressiva

COMPASSIONATE ALLOWANCE INFORMATION

FIBRODYSPLASIA OSSIFICANS PROGRESSIVA

ALTERNATE NAMES

FOP; Myositis Ossificans Progressiva; Progressive Myositis Ossificans; Progressive Ossifying Myositis; Munchmeyer Disease

DESCRIPTION

Fibrodysplasia Ossificans Progressiva (FOP) is an inherited disorder in which muscle tissue and connective tissue such as tendons, muscles and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that progressively locks joints in place and makes movement difficult or impossible.

This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs, rendering them permanently unable to bend or move. Any small injury to connective tissue (muscles, ligaments, and tendons) can result in the formation of hard bone around the damaged site. The extra bone that develops is normal, but grows in the wrong place.

Surgical attempts to remove the extra, unwanted bone results in an explosive growth of more bone. Inability to open the mouth may cause difficulty speaking or eating.

Over time, individuals with this disorder may experience malnutrition due to their eating problems. These individuals may also have breathing difficulties because of extra bone formation around the rib cage that restricts expansion of the lungs.

FOP is caused by mutations in the ACVR1 gene related to the “BMP pathway”, which is associated with the formation of the skeleton in the embryo and the repair of the skeleton following birth.

FOP is a very rare genetic disease affecting approximately 1 in 2 million people worldwide.

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

Diagnostic testing : The diagnosis of this impairment is made by physical examination; Evidence of mutation in the ACVR1 gene; and MRI/CT showing evidence of hetertropic bone formation.

Physical findings :

  • Malformations of the big (great) toes;

  • Short thumbs; curved fifth finger;

  • Diminished range of motion (ROM) of the joints, especially the neck, spine, shoulder girdle and arms;

  • Tall narrow vertebral bodies;

  • Fusion of the facet joints between C2 and C7;

  • Decreased oral aperture (opening of the mouth); and

  • Diminished chest expansion.

ICD-9 : 728.11

ICD-10: M61.1

TREATMENT

Currently there are no known effective treatments. Medication is only helpful to manage symptoms of pain, inflammation, etc. during acute flare-ups. Surgical attempts to remove the extra, unwanted bone may result in growth of more bone.

PROGRESSION

FOP usually begins during early childhood and progresses throughout life. Most children with FOP develop episodic, painful inflammatory soft tissue swellings (or flare-ups) during the first decade of life. Life expectancy is variable and usually related to the extent of calcification and the organ systems affected.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • MRI/CT of muscles and joints; and

  • Laboratory tests results documenting mutations in the ACVR1 gene.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

101.02 A & 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 23022.540 Aortic Atresia

    

COMPASSIONATE ALLOWANCE INFORMATION

AORTIC ATRESIA

ALTERNATE NAMES

Aortic Valve Atresia; Aortic Valve Stenosis

DESCRIPTION

Aortic Atresia is a rare congenital heart defect in which there is no opening from the left ventricle of the heart into the aorta. This type of obstruction interrupts blood flow from the left ventricle of the heart to the body. Because of this blockage, the only other way for blood to flow to the rest of the body is through another structure in the heart called the ductus ateriosus. Aortic atresia usually occurs in combination with other heart defects, such as hypoplastic left heart syndrome. This combination is the most frequent cause of congestive heart failure and death in the neonatal period (the first 28 days of life).

Infants with aortic valve atresia surviving into adulthood may develop problems with their heart functioning later in life due to worsening of the condition. Over time, the surgical treatments that were used at infancy to repair the aortic heart valve may leave scar tissue behind, increasing the chances of abnormal heart rhythm (arrhythmia) and an area for infection called SBE (subacute bacterial endocarditis).

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

Diagnostic testing:

  • Chest x-ray;

  • Electrocardiogram;

  • Echocardiogram;

  • Cardiac catheterization; and

  • Cardiac magnetic resonance imaging (MRI).

Physical findings: The physical findings associated with aortic atresia include:  

  • Cyanosis (blue-tinged skin);

  • Dyspnea (shortness of breath);

  • Rapidly progressive heart failure with hepatomegaly (enlarged liver); and

  • A gallop rhythm.

ICD-9: 747.22

ICD-10: Q25.2
PROGRESSION A diagnosis of aortic atresia is usually made shortly after birth. Disease progression is variable based on the severity of the congenital heart defects and the response to medication and surgical interventions.

TREATMENT

The treatment of aortic atresia is based on the severity of the condition. Infants are usually treated with medications to keep the ductus arteriosis open, and staged surgical intervention. Adults should be monitored by a cardiologist to assess the need for medication, surgery, and for heart infections (endocarditis) throughout their lifetime.

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

  • Cardiology consultation reports;

  • Imaging studies of the heart; and

  • Blood laboratory testing including hematocrit, arterial blood gases, or arterial O2 saturation.

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 4.06

104.06 A, B, C, or D

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 23022.545 Eisenmenger Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

EISENMENGER SYNDROME

ALTERNATE NAMES

Eisenmenger Complex; Eisenmenger Disease; Eisenmenger Reaction; Eisenmenger Physiology; Congenital heart defect – Eisenmenger; Cyanotic Heart Disease –Eisenmenger; Birth Defect heart – Eisenmenger; ES

DESCRIPTION

Eisenmenger syndrome is a rare progressive heart condition that results from uncorrected congenital (present at birth) heart disease. Babies born with this condition have abnormal communication between the normal pumping chambers of the heart. This communication allows blood that has already received oxygen from the lungs to flow back through the lungs, instead of being circulated to the rest of the body. This abnormal blood flow through the lungs, results in higher pressure within the pulmonary circulation damaging these vessels and causing pulmonary hypertension. As this condition worsens and the pressure increases, the backed up oxygen poor blood is then circulated to the rest of the body. Eisenmenger syndrome usually develops before a child reaches puberty, but may develop in adolescence and early adulthood.

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

Diagnostic testing: Diagnostic testing for Eisenmenger syndrome includes:

  • Complete blood count (CBC);

  • Chest x-ray;

  • MRI scan of the heart;

  • Cardiac catheterization;

  • Electrocardiogram; and

  • Echocardiogram.

Physical findings:

  • Abnormal heart rhythm (arrhythmia);

  • Bluish lips, fingers, toes, and skin (cyanosis);

  • Heart murmurs (extra sounds when listening to the heart);

  • Chest pain;

  • Episodes of coughing up blood;

  • Dizziness;

  • Fainting;

  • Fatigue;

  • Shortness of breath;

  • Stroke; and

  • Enlarged fingers and toes (clubbing).

ICD-9: 745.4

ICD-10: Q24.9

TREATMENT

Treatment is aimed at controlling the child’s symptoms, improving quality of life, and the prevention of serious complications.

PROGRESSION

Generally, the presence of Eisenmenger syndrome signals inoperability of the underlying congenital problem. Some children may benefit from heart and lung transplantation or lung transplant.

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

  • Laboratory studies are needed to confirm the diagnosis.

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 23022.550 Endomyocardial Fibrosis

COMPASSIONATE ALLOWANCE INFORMATION

ENDOMYOCARDIAL FIBROSIS

ALTERNATE NAMES

EMF; Davies Disease; Fibroelastic Endocarditis, Loeffler Endomyocardial Fibrosis with Eosinophilia; Loeffler Fibroplastic Parietal Endocarditis; Loeffler’s Disease

DESCRIPTION

Endomyocardial Fibrosis (EMF) is a rare progressive type of heart disease of unknown origin (idiopathic). It is illustrated by progressive fibrosis (the development of excess fibrous connective tissue) of the lining of one or both lower heart chambers. This results in constriction of the heart cavity and can involve the heart valves and other structures. The overall prognosis is poor and depends on the extent and distribution of disease within the various heart chambers and valves of the heart. EMF is an idiopathic disorder of the tropical and subtropical regions of the world characterized by the development of restrictive cardiomyopathy. Women and children are more commonly affected than men.

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

Diagnostic testing:

  • Clinical examination describing physical findings;

  • Complete blood count showing anemia and eosinophilia;

  • Chest x-ray showing cardiomegaly;

  • Imaging studies showing enlargement of the atria;

  • Echocardiography;

  • Angiography showing distortion of the heart chambers;

  • Electron beam computed tomography; and

  • Cardiovascular magnetic resonance imaging (MRI) showing obliterative changes in the ventricles, atrial dilation, and regurgitant antrioventricular valves.

 Physical findings: Signs of this disease include:

  • Fibrotic heart lesions;

  • Calcification;

  • Restricted ventricle; and

  • Mitral regurgitation.

ICD-9: 288.3

ICD-10: 142.3

TREATMENT

There is no definitive cure for this condition. Palliative treatment aimed at controlling symptoms, utilizing diuretics, digoxin, beta-blockers, endocardiectomy, cardiopulmonary bypass, and immunosuppressive therapy.

PROGRESSION

Most people have extensive disease at the time of diagnosis. The disease is usually fatal within one to three years after onset of symptoms. Prognosis for this condition is poor with high incidences of sudden cardiac death from fatal arrhythmias or from progressive cardiac failure.

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

  • Complete blood count (CBC);

  • Electrocardiogram (ECG);

  • Chest X-ray (CXR); or

  • Cardiac catheterization; and cardiovascular magnetic resonance imaging (MRI).

Suggested Listings for Evaluation:
DETERMINATION

LISTING

REMARKS
Meets 4.02
4.05
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 23022.580 Cardiac Amyloidosis - AL Type

 

COMPASSIONATE ALLOWANCE INFORMATION

CARDIAC AMYLOIDOSIS - AL TYPE

ALTERNATE NAMES

Light Chain Cardiac Amyloidosis; Cardiac Amyloidosis Light Chain Disease; Primary Cardiac Amyloidosis

DESCRIPTION

Cardiac Amyloidosis - AL type is a rare heart disease caused by deposits of abnormal protein (amyloid) in the heart tissue. These proteins slowly replace normal heart tissue causing the heart to become stiff. People with this disease often experience difficulties with the way in which electrical signals move through the heart conduction system. These electrical disturbances can lead to arrhythmias and heart block. Heart function also becomes reduced.

Adjudicators are reminded to not confuse Cardiac Amyloidosis- AL type with other types of amyloidosis with cardiac involvement (e.g. familial or senile age related transthyretin (ATTR) and secondary (AA) amyloidosis). These types of amyloidosis are also known as heavy chain amyloidosis. Although they can also affect the heart, their severity and progression are variable and must be evaluated on a case-by-case basis.

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

Diagnostic testing: The diagnosis of Cardiac Amyloidosis - AL type is made by:

  • Chest or abdomen CT scan;

  • Coronary Angiography;

  • Echocardiogram;

  • MRI; and

  • Nuclear heart scans help diagnose cardiac amyloidosis light chain disease.

A tissue biopsy (not necessarily of the heart) confirms the diagnosis.

Physical findings: Symptoms and signs may be similar to what is seen in congestive heart failure and may include:

  • Excessive fluid retention;

  • Excessive urination at night;

  • Fatigue;

  • Heart palpitations;

  • Shortness of breath with activity;

  • Swelling of the legs and ankles; and

  • Difficulty breathing while lying down.

ICD-9: 277.3; 427.x; 428.x

ICD-10: I43

PROGRESSION

Cardiac Amyloidosis - AL type is a chronic condition that rapidly worsens. The median survival of persons diagnosed with this condition is about 1 year.

TREATMENT

Medical therapy of persons with Cardiac Amyloidosis – AL type is only of limited value. Heart transplantation may also be considered; and it usually increases life expectancy, although it is often less than that of other heart transplant recipients.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical examination that describes the diagnostic features of cardiac involvement; and

  • Tissue biopsy.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets
Equals 4.02

4.05

* 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 23022.921 Adult Non-Hodgkin Lymphoma

COMPASSIONATE ALLOWANCE INFORMATION

ADULT NON-HODGKIN LYMPHOMA

ALTERNATE NAMES

Lymphoma - non-Hodgkin's; Lymphocytic lymphoma; Histiocytic lymphoma; Lymphoblastic lymphoma; Cancer - non-Hodgkin's lymphoma; Diffuse Large B-Cell Lymphoma; DLBCL

DESCRIPTION

Adult Non-Hodgkin Lymphoma (NHL) is a type of cancer that starts in the lymphatic system, which in turn allows spread to other organs and tissues in the body. Adult NHL is categorized into three grades:

  • Low grade or indolent, which are slow growing lymphomas;

  • Intermediate grade or aggressive and faster growing lymphomas; and

  • High-grade or highly aggressive and very fast growing lymphomas.

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

Diagnostic testing : Diagnostic testing for Adult NHL includes:

  • Blood chemistry studies;

  • CT scan;

  • PET scan;

  • MRI; and

  • Bone marrow aspiration and biopsy.

Physical findings: Adult NHL may cause different signs and symptoms, depending on the location of the tumor. These signs may include:

  • Swollen lymph nodes in the neck, armpit or groin;

  • Discomfort or feeling of fullness in the abdomen;

  • Fatigue;

  • Shortness of breath; and

  • Unexplained fever, night sweats, or weight loss.

ICD-9: 200.2; 200.5; 200.6; 200.7; 202.0; 202.7; 202.8

ICD-10: C85.90

PROGRESSION

NHL can occur at any age, with the risk of increasing with age. Most people are diagnosed in their 60’s. The prognosis for Adult NHL is dependent on the type and characteristics of the malignant tumor, the growth and location of the tumor, and the spread (metastasis) at the time of diagnosis.

TREATMENT

Adult NHL is mainly treated with chemotherapy, with radiation therapy, or antibody or biological therapy added depending on response to treatment.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Imaging tests;

  • Biopsies;

  • Pathology reports;

  • Surgical procedures;

  • Pertinent treatment records; and

  • Up-to-date progress notes.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.05 A

Listing level aggressive adult Non-Hodgkin Lymphoma requires that the cancer be recurrent after initial anti-neoplastic treatment. Listing level indolent adult non-Hodgkin lymphoma requires initiation of more than one antineoplastic treatment regimen within a consecutive 12-month period.

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 23022.927 Alveolar Soft Part Sarcoma

COMPASSIONATE ALLOWANCE INFORMATION
ALVEOLAR SOFT PART SARCOMA

ALTERNATE NAMES

ASP Sarcoma; ASPS

DESCRIPTION

Alveolar Soft Part Sarcoma (ASP) is a rare type of soft tissue sarcoma occurring primarily in children and adolescents. These tumors are usually located in the head and neck, arms or legs (usually the deep thigh area), chest, abdomen, genital organs, or anal area.

These tumors usually arise in the soft tissues containing many blood vessels, but can also grow inside the bones. The exact cause of ASP is unknown, but some scientific research suggests that genetic mutations in the ASPL and TFE3 genes are contributory to the cause of ASP.

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

Diagnostic testing :

  • X-ray;

  • CT scan;

  • MRI scan;

  • Bone scan;

  • Ultrasound exam;

  • Bone marrow aspiration and biopsy;

  • Lumbar puncture;

  • Immunohistochemistry study; and

  • Cytogenetic analysis.

Physical findings: Physical findings of ASP depend on the site of the tumor and degree of metastases. These signs may include:

  • A painless swelling or lump;

  • Pain or soreness caused by compressed nerves or muscles; and

  • Limping or other difficulty using the legs and feet.

ICD-9: 171.9

ICD-10: C49

PROGRESSION

ASP occurs mainly in children between the ages of infancy to approximately 19 years of age. The prognosis is poor if there are metastases to other sites. Persons with ASP tumors may relapse several years after a prolonged period of apparent remission.

TREATMENT

Treatment of ASP tumors depends on the specific type of tumor, its size, its location, and the amount that it has spread (metastasis). The standard treatment of these tumors is a complete resection of the primary tumor. If complete excision is not feasible, radiation therapy is administered. Adjuvant chemotherapy is used in some patients with varying response to treatment.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Biopsy reports; and

  • Imaging reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.04

Listing level severity of soft tissue sarcomas in adults must be documented by metastases, or by recurrence or persistence following initial anti-neoplastic treatment.

113.03

Listing level severity in children must be documented by confirmed diagnosis or recurrence.

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 23022.929 Aplastic Anemia

COMPASSIONATE ALLOWANCE INFORMATION

APLASTIC ANEMIA

ALTERNATE NAMES

Acquired Aplastic Anemia; Anemia Aplastic; Bone Marrow Failure; Idiopathic Aplastic Anemia; Secondary Aplastic Anemia; Severe Aplastic Anemia

DESCRIPTION

Aplastic Anemia (AA) is a rare blood disorder that occurs when the body’s bone marrow does not make enough new cells to replenish blood cells. Although anemia usually refers to low red blood cell counts, typically in AA there are also low white blood cell and low platelet counts. In most cases, AA is considered to be idiopathic, meaning the cause is unknown. Less commonly, AA can be caused by exposure to certain drugs, viral infections (i.e. hepatitis, Epstein-Barr virus, cytomegalovirus, parvovirus B19, and HIV), autoimmune disorders (i.e. lupus and rheumatoid arthritis) radiation therapy, or toxins (i.e. pesticides, benzene or arsenic).

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

Diagnostic testing : Bone marrow aspirate and biopsy is required for diagnosis and to rule out other causes of pancytopenia such as cancer or infection; blood counts documenting anemia, thrombocytopenia, leukopenia and low reticulocytes counts.

Physical findings :

  • Anemia with fatigue and pallor;

  • Bruising;

  • Petechiae (non-raised hemorrhage in the skin or in a membrane);

  • Bleeding gums;

  • Bleeding of internal organs;

  • Frequent or severe infections;

  • Nosebleeds;

  • Rapid heart rate;

  • Rash;

  • Shortness of breath during physical activity; and

  • Weakness.

ICD-9: 284.9

ICD-10: D61.3

PROGRESSION

AA usually gets worse unless the cause is removed or the disease is treated. Mild and moderate forms of the disease often progress slower than the severe form.

TREATMENT

Supportive treatments for AA include blood transfusions, platelet transfusions, and medications such as antithymocyte globulin (ATG) or antilymphocyte globulin (ALG), cyclosporine, or low dose chemotherapy. If the bone marrow does not recover and start producing blood cell elements, then bone marrow transplant (BMT) is required. BMT has been successful in the treatment of young patients, with a long-term survival of approximately 80%. Older patients have a survival rate of 40 – 70% after a transplant. If left untreated, severe aplastic anemia can become life threatening.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Laboratory studies and bone marrow biopsy pathology reports; and

  • Documentation of bone marrow or stem cell transplantation.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

7.17

Listing level severity requires documentation of bone marrow or stem cell transplantation; reevaluate 1 year after transplantation.

107.17

Equals

7.17

107.17

* 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 23022.931 Beta Thalassemia Major

COMPASSIONATE ALLOWANCE INFORMATION

BETA THALASSEMIA MAJOR

ALTERNATE NAMES

Beta Thalassemia Major Syndrome; Beta Thalassemia Major Disease; Thalassemia Major; Cooley Anemia; Cooley Anemia Disease; Cooley Anemia Syndrome; Erythroblastic Anemia of Childhood; Microcythemia Major; Mediterranean Anemia Major; Beta Zero Thalassemia

DESCRIPTION

Beta Thalassemia Major (BT major) is a hereditary blood disorder where the bone marrow is unable to produce the beta chain of hemoglobin, resulting in chronic anemia and lowered ability of the blood to transport oxygen to cells. BT major is the most severe type of thalassemia (the other types are BT intermedia and BT minor.) BT major requires regular lifelong blood transfusions, and the affected individuals are considered to be “transfusion-dependent”. Over time, the chronic blood transfusions lead to a buildup of iron in the body (iron overload), and require iron chelation therapy.

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

Diagnostic testing :

  • Complete blood count (CBC);

  • Reticulocyte counts;

  • Hemoglobin electrophoresis;

  • Quantitative hemoglobin A2; and

  • Quantitative hemoglobin F.

Physical findings :

  • Poor growth/failure to thrive;

  • Delayed puberty;

  • Pallor;

  • Jaundice (yellowish color of the skin or whites of the eyes);

  • Enlarged spleen, liver or heart; and

  • Skeletal abnormalities (especially the bones in the face).

ICD-9: 282.44

ICD-10: D56.1

PROGRESSION

Signs and symptoms of BT major usually occur within the first 2 years. Children develop life-threatening anemia, have failure to thrive, and may develop jaundice. People with BT major are prone to complications such as infection, and osteoporosis.

TREATMENT

Life-long blood transfusions at least once every six weeks are required for BT major; iron chelation therapy once significant iron overload occurs; and folic acid supplements. Stem cell transplant is the only treatment that can cure BT. Without transplantation, death by age 20 is common.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Laboratory reports documenting hemoglobin levels and electrophoresis; iron studies to document iron overload or liver toxicity; and

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

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

7.05 D

Beta-Thalassemia Major with “Red blood cell transfusion-dependency” is consistent with listing level severity.

Reevaluate adult Beta-Thalassemia Major 1 year after bone marrow or stem cell transplantation.

7.17

Beta-Thalassemia Major with “Red blood cell transfusion-dependency” is consistent with listing level severity.

Reevaluate adult Beta-Thalassemia Major 1 year after bone marrow or stem cell transplantation.

107.05 D

Beta-Thalassemia Major with “Red blood cell transfusion-dependency” is consistent with listing level severity.

Reevaluate child Beta-Thalassemia Major 1 year after bone marrow or stem cell transplantation.

107.17

Beta-Thalassemia Major with “Red blood cell transfusion-dependency” is consistent with listing level severity.

Reevaluate child Beta-Thalassemia Major 1 year after bone marrow or stem cell transplantation.
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 23022.933 Bilateral Optic Atrophy - Infantile

COMPASSIONATE ALLOWANCE INFORMATION

BILATERAL OPTIC ATROPHY - INFANTILE

ALTERNATE NAMES

Infantile Bilateral Optic Atrophy; Bilateral Optic Neuropathy; Idiopathic Bilateral Optic Atrophy; Congenital Optic Atrophy; Pediatric Bilateral Optic Atrophy

DESCRIPTION

Bilateral Optic Atrophy (BOA) is a condition that affects the optic nerve, which carries impulses from the eye to the brain. Characteristics of BOA involve deficits in central vision, difficulties distinguishing contrast, loss of visual acuity, and changes in the color and the structure of the optic disc. BOA occurs in both eyes from time of birth and may cause rhythmic, involuntary eye movements (nystagmus). This disorder may be caused by a number of diseases and conditions, such as tumors of the visual pathways, hypoxia before or shortly after birth, birth trauma, hydrocephalus, heredity, and degenerative diseases. Many children with BOA may have other neurological problems such as seizures, developmental delays or motor problems.

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

Diagnostic testing:

  • Neuroimaging;

  • Electroretinogram; or

  • VER testing.

Physical findings:

  • Diminished visual acuity;

  • Inability to fixate and follow;

  • Abnormal pupil reaction to light; and

  • Evidence of nystagmus.

ICD-9: 377.10

ICD-10: H47.213

PROGRESSION

BOA symptoms may occur suddenly or process gradually depending on the cause. Visual acuity may range from nearly normal to blindness.

TREATMENT

There is no cure for BOA. Treatment is symptomatic and based on the primary cause of this disorder (i.e. tumors may be surgically removed).

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

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

  • If the child is unable to use the Snellen methodology or other comparable testing, documentation of fixation and visual following behavior; and

  • Reports of anatomical findings or results of neuroimaging, electroretinogram, or VER testing.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

102.02

Listing level severity must be documented.

102.03

Listing level severity must be documented.

102.04

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 23022.939 Congenital Lymphedema

COMPASSIONATE ALLOWANCE INFORMATION

CONGENITAL LYMPHEDEMA

ALTERNATE NAMES

Congenital Hereditary Lymphedema; Primary Lymphedema; Congenital Primary Lymphedema; Milroy disease

DESCRIPTION

Lymphedema is swelling that is caused by the abnormal accumulation of lymph fluid in tissues, resulting from malfunctions in the lymphatic system or blockage of lymph vessels. Congenital Lymphedema is a rare type of primary lymphedema (non-acquired) occurring at birth. In most cases, lymphedema primarily affects the lower limbs (starting with the feet) but it can also affect the upper limbs. The exact cause of congenital lymphedema is unknown, but the disorder may be part of a congenital syndrome. Females are twice as likely as males to have congenital lymphedema.

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

Diagnostic testing:

  • Biopsy reports documenting lymphatic channel anaplasia;

  • CT, MRI, or nuclear medicine scans; and

  • Doppler ultrasonography is used to evaluate flow in the lymphatic and venous systems.

Physical findings: Physical findings of this condition may include:

  • Lymphatic pathway dysplasia (abnormal development of the lymphatic vessels that transports lymphatic fluid;

  • Aplasia (congenital absence of a limb, organ or other body part);

  • Hypoplasia (incomplete development of an organ or part);

  • Heavy, swollen lower or upper limbs that may be shorter than unaffected limbs, or may have digital anomalies; and

  • Skin changes such as tightness, thickening, discoloration or hardening; there may be signs of infection.

ICD-9: 757.0

ICD-10: Q82.0

PROGRESSION

This disorder occurs at birth or soon after and is most often bilateral. In some cases, the lymphedema may spontaneously improve. Other syndromic types of lymphedema have later onset, most often during puberty.

TREATMENT

There is no cure for lymphedema. Treatment is symptomatic, and surgery is considered to be palliative. Infections are a major risk and require prompt initiation of antibiotics and wound care. Persons with lymphedema are treated with compression bandages and manual lymph drainage massage techniques to move the extra fluid to other parts of the body so that the body can excrete it.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Doppler ultrasound reports documenting abnormal flow in lymphatic and venous systems; and

  • Biopsy reports.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

101.02 A or B

Listing level severity must be documented.

Equals

101.08

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 23022.943 Dravet Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

DRAVET SYNDROME

ALTERNATE NAMES

Severe Myoclonic Epilepsy Of/In Infancy; SMEI Syndrome; Epilepsy with Polymorphic Seizures; Polymorphic Epilepsy in Infancy; PMEI

DESCRIPTION

Dravet syndrome (DS) is a rare, genetic epileptic encephalopathy (dysfunction of the brain) with onset during the first year of life. Mutations of the SCN1A gene cause up to 80% of diagnosed cases of DS. Frequently referred to as a sodium channelopathy, this intractable epilepsy is characterized by unilateral (one-sided) clonic or tonic clonic (grand mal) seizures that are prolonged (> 5 minutes) or progress to status epilepticus (>30 minutes) and require emergency management. Myoclonic seizures, often called myoclonic jerks, are common. Over time seizures occur more frequently without obvious triggers, and resistant to treatment.

Between one and four years of age, children develop other seizure types including atypical absence, eyelid myoclonia and non-convulsive seizures. All seizure types may be prolonged or lead to status epilepticus--a state of continuous seizure requiring emergency medical care. Children with DS typically experience poor development of language and motor skills, hyperactivity, and difficulty relating to others.

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

Diagnostic testing: Genetic testing for mutations within the SCN1A gene; EEGs.

Physical findings:

  • Ataxia;

  • Dysarthria;

  • Intention tremor; and

  • Abnormal eye movement disorder.

ICD-9: 345.1

ICD-10: G40

PROGRESSION

Infants with Dravet syndrome appear normal at birth with most children showing signs and symptoms of this disorder during the first year of life. As children with Dravet syndrome get older, the degree of intellectual impairment appears to correlate with the frequency of seizures. The decline in cognitive function tends to stabilize after age 4. Children surviving into adolescence and adulthood are dependent on caregivers.

TREATMENT

Seizures in Dravet syndrome are difficult to manage, but can be reduced by anticonvulsant drugs. Some medications may aggravate seizures necessitating close monitoring of medication use by the claimant’s medical source(s). Treatment with a ketogenic diet high in fats and low in carbohydrates has been of benefit in some cases.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

  • Clinical history and examination that describes the diagnostic features of the impairment, and physical and cognitive findings;

  • Imaging studies such as CT, MRI, or PET scans documenting structural changes in the brain;

  • EEG reports measuring abnormalities in electrical activity in the brain; and

  • Laboratory testing to rule out other causes (such as low or high blood sugar, low sodium, low magnesium or thyroid disorder) for seizures and for mutations in the SCN1A gene.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

11.02

Listing level severity must be documented.

111.02

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 23022.945 Endometrial Stromal Sarcoma

COMPASSIONATE ALLOWANCE INFORMATION

ENDOMETRIAL STROMAL SARCOMA

ALTERNATE NAMES

Endometrial Stromal Sarcoma Grade III/IV; High Grade Endometrial Stromal Sarcoma; ESS; Undifferentiated Uterine Sarcoma; UUS

DESCRIPTION

Endometrial Stromal Sarcoma (ESS) is the rarest type of uterine cancer that accounts for less than 1% of cancers of the female reproductive organs. These tumors tend to occur more often in premenopausal women between 40-50 years of age. This is younger than the average for uterine cancer in general (early 60s). African American women are two times more likely to get these rare uterine cancers.

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

Diagnostic testing:

  • Examination of endometrial cells collected during a dilation and curettage (D&C) procedure;

  • Endometrial biopsy;

  • Hysteroscopy; and

  • MRI or CT scans of the pelvis.

Physical findings:

  • Vaginal bleeding and/or spotting in postmenopausal women;

  • Abnormal uterine bleeding;

  • Anemia caused by chronic loss of blood;

  • Enlarged uterus;

  • Lower abdominal pain or pelvic cramping; or

  • Vaginal discharge.

ICD-9: 182.0

ICD-10: C54.1

PROGRESSION

The prognosis for ESS is poor as it is a high grade malignancy that grows and metastasizes quickly. By the time this sarcoma is diagnosed, it has often spread outside of the uterus. Once treated, it also has a high propensity for recurrence.

TREATMENT

Most ESS are treated with complete surgical resection including total abdominal hysterectomy (removal of the uterus) and bilateral salpingo-oophrorectomy (removal of the fallopian tube and ovary), plus chemotherapy and radiation therapy.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Pathology report of a biopsy specimen of the stroma of the endometrium; and

  • Surgery reports and/or imaging that document spread of cancer.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

13.04 A or B

Listing level severity must be documented.

13.23 A

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 23022.951 Fryns Syndrome

COMPASSIONATE ALLOWANCE INFORMATION

FRYNS SYNDROME

ALTERNATE NAMES

FRNS; Diaphragmatic Hernia, Abnormal Face, and Distal Limb Anomalies; Congenital Diaphragmatic Hernia; CDH

DESCRIPTION

Fryns Syndrome (FRNS) is a rare congenital disorder that affects the development of many parts of the body. Children with FRNS are born with a diaphragmatic hernia (hole in the diaphragm) that results in pulmonary hypoplasia (underdeveloped lungs), causing life-threatening breathing difficulties in affected infants. Other characteristics may include abnormalities of the fingers and toes; distinctive facial features; severe developmental delay and intellectual disability; and abnormalities of the brain, cardiovascular system, gastrointestinal system, kidneys, and genitalia. The exact cause of this condition is unknown, but is thought to be caused by autosomal recessive genetic mutations.

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

Diagnostic testing: The diagnosis of FRNS is based on clinical findings—no specific genetic mutations have been identified. Imaging such as chest and abdominal radiographs, cranial ultrasound examination, echocardiogram, and renal ultrasound may be used to determine the extent of the disease. Just having a congenital diaphragmatic hernia alone does not make the diagnosis.

Physical findings:

  • Congenital diaphragmatic hernia requiring emergency surgery at birth;

  • Pulmonary hypoplasia;

  • Characteristic facial features (ocular hypertelorism, coarse facies, low-set ears, micrognathia);

  • Cloudy corneas;

  • Abnormalities of the fingers and toes (distal digital hypoplasia);

  • Kidney dysplasia;

  • Severe developmental delay and intellectual disability; and

  • Abnormalities of the brain, cardiovascular system, gastrointestinal system, kidneys, and genitalia.

ICD-9: 756.6

ICD-10: Q79.0

PROGRESSION

FRNS is a congenital disorder that is characterized by multiple abnormalities that may affect cardiac, lung, and renal functioning. Survival beyond the neonatal period has been rare. In the few individuals that survive, severe developmental delays and intellectual impairment are common.

TREATMENT

The treatment and management of FRNS is symptomatic such as corrective surgery for hernia repair. Standard supportive treatment is needed for children with cardiac, renal, and pulmonary involvement. School age children require individualized and flexible instructional curricula.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Laboratory findings; and

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

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08 A

Listing level severity must be documented.

110.08 B

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 23022.953 Fulminant Giant Cell Myocarditis

COMPASSIONATE ALLOWANCE INFORMATION

FULMINANT GIANT CELL MYOCARDITIS

ALTERNATE NAMES

Fulminant GCM; Fulminant Myocarditis; Fulminant Non-ischemic Dilated Cardiomyopathy

DESCRIPTION

Giant Cell Myocarditis (GCM) is a rare, autoimmune, cardiovascular disorder that causes inflammation of the heart muscle, ventricular tachycardia (a rapid heartbeat that starts in the ventricles) and often progresses to heart failure. Fulminant Giant Cell Myocarditis is a form of GCM that occurs suddenly and without warning. The cause of this disease is unknown.

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

Diagnostic testing:

  • Endomyocardial biopsy;

  • Clinical laboratory tests;

  • Coronary angiography;

  • Cardiac magnietic resonance imaging (MRI); and

  • Biomarkers of cardiac injury.

Physical findings: People with fulminant GCM may have a medical history significant for autoimmune diseases such as:

  • Collagen vascular disease;

  • Inflammatory bowel disease;

  • Diabetes mellitus;

  • Sarcoidosis;

  • Thyrotoxicosis;

  • Wegener granulomatosis; or

  • Loeffler syndrome.

Symptoms of fulminant GCM include fever and other signs of infection including:

  • Headache;

  • Muscle aches;

  • Sore throat;

  • Diarrhea;

  • Rashes;

  • Joint pain; or

  • Swelling.

ICD-9: 422.91

ICD-10: I42.8

PROGRESSION

Fulminant GCM has a poor prognosis and frequently requires heart transplantation or immunosuppression for long term survival. This disease most often occurs in people over 50 years of age. Mortality is associated with heart failure and ventricular arrhythmia.

TREATMENT

Immunosuppressive drug therapy is initially used to treat fulminant GCM. Damage caused by heart muscle destruction and eventual heart failure eventually requires heart transplantation.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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

  • Cardiac MRI report; and

  • Cardiac biopsy report.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

4.02

Listing level severity must be documented.

4.05

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 31 - Processing Quick Disability Determination (QDD) and Compassionate Allowance (CAL) in the Disability Determination Services (DDS) - 8/20/2020