Program Operations Manual System (POMS)
TN 36 (09-20)
COMPASSIONATE ALLOWANCES INFORMATION
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WOLMAN DISEASE
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ALTERNATE NAMES
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Acid Lipase disease; Cholesterol Ester Storage disease; Acid Cholesterol Ester Hydrolase
deficiency, Wolman Type; Lysosomal Acid Lipase deficiency, Wolman Type; Familial Xanthomatosis;
Liposomal Acid Lipase Deficiency, Wolman Type; LAL Deficiency, Wolman Type
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DESCRIPTION
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Wolman disease is a type of autosomal recessive disorder caused by mutations of the lysosomal acid
lipase (LIPA) gene. The disorder occurs when the enzyme needed to break down certain
fats that are normally digested by the body is lacking or missing, resulting in the
toxic buildup of these fats in the body’s cells and tissues. These fatty substances
are called cholesterol esters (a transportable form of cholesterol that brings nutrients
into the cells and carries out waste) and triglycerides (a chemical form in which
fats exist in the body). Both male and female infants are affected by the disorder.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING |
Diagnostic
testing:
Diagnosis is made through:
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Molecular analysis of cells or tissue to identify inherited metabolic disorders; and
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Enzyme assays (testing a variety of cells or body fluids in culture for enzyme deficiency).
In some forms of the disorder, a urine analysis can identify the presence of stored
material.
Physical
findings: Infants with the disorder appear normal at birth but quickly develop:
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Progressive mental deterioration;
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Gastrointestinal problems;
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Calcium deposits in the adrenal glands, causing them to harden;
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Enlarged liver and grossly enlarged spleen (hepatosplenomegaly); and
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ICD-9:
272.7
ICD-10: E78.0
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PROGRESSION |
Infants with Wolman disease usually die by age 1 from malnutrition.
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TREATMENT
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There is no specific treatment for Wolman disease. Certain drugs may be given to help
with adrenal gland production, and children may need to be fed intravenously.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical examination that describes diagnostic features of the impairment;
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Description of physical findings;
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Genetic testing reports; and
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Blood and urine analysis.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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110.08
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Equals
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* 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.
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