WOLMAN DISEASE

ALTERNATE NAMES

Acid Lipase disease; Cholesterol Ester Storage disease; Acid Cholesterol Ester Hydrolase deficiency, Wolman Type; Lysosomal Acid Lipase deficiency, Wolman Type

DESCRIPTION

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). Infants with the disorder appear normal at birth but quickly develop progressive mental deterioration, low muscle tone, jaundice, anemia, vomiting, malnourishment, gastrointestinal problems, and calcium deposits in the adrenal glands, causing them to harden. Affected children also develop an enlarged liver and grossly enlarged spleen (hepatosplenomegaly), and the abdomen is distended. Both male and female infants are affected by the disorder.

DIAGNOSTIC

TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Diagnosis is made through clinical examination, biopsy, genetic testing, molecular analysis of cells or tissue to identify inherited metabolic disorders, and 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. 

ICD-9: 272.7 Lipidoses

ONSET AND PROGRESSION

Infants with Wolman disease usually die by age 1 from malnutrition.

TREATMENT

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. 

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Clinical examination, description of physical findings, genetic testing reports, blood and urine analysis.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

110.08 B

Medical Equals