ALTERNATE NAMES

Acid Cholesterol Ester Hydrolase Deficiency, Wolman Type; Acid Lipase Disease; Cholesterol Ester Storage Disease; Familial Xanthomatosis; Liposomal Acid Lipase Deficiency, Wolman Type; LAL 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). Both male and female infants are affected by the disorder.

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

Diagnostic testing:

Diagnosis is made through:

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  Clinical examination;

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  Biopsy;

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  Genetic testing;

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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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  Low muscle tone;

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  Jaundice;

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  Anemia;

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  Vomiting;

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  Malnourishment;

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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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  Distended abdomen.

ICD-9: 272.7

ICD-10: E78.0

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:

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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.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets

110.08

Equals