Assays / Genetic Enzymes / Wolman Disease and Cholesterol Ester Storage Disease

Wolman disease is a severe disorder with early presentation of hepatosplenomegaly, abdominal distension, failure to thrive and adrenal calcification. It is usually fatal before 1 year of age. CESD is milder and allelic with Wolman disease. Hepatomegaly may be the only clinical abnormality, but there is usually hyperlipoproteinaemia of type IIb. The SAS laboratory was involved with diagnosis of one adult patient who requested follow up after elevated plasma cholesterol was detected with a home cholesterol kit. Between the most severe and mild forms of the diseases there are several intermediate phenotypes.

ENZYME TEST: Acid esterase is measured in white cells and fibroblasts.

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