Wolman's disease. Lysosomal acid lipase deficiency. Cholesterol ester storage disease.
Incidence
It is transmitted as autosomal recessive trait.
Clinical Characteristics
Wolman's disease has an early onset (within the first weeks of life) and is marked by major digestive signs (vomiting, diarrhea with steatorrhea) and abdominal distension, with major to massive hepatosplenomegaly. Severe anemia and cachexia follow. Few children survive beyond one year of age. A characteristic radiological sign is calcified adrenal glands. The cardinal symptom in cholesterol ester storage disease is hepatomegaly with variable onset, that may progress to fibrosis. Splenomegaly is associated in 1/3 of cases, and hyperlipidemia type IIb is a common finding. Adult patients are at high risk for atherosclerosis. Foamy histiocytes are found in bone marrow in both forms. Diagnosis is made by enzyme assay. The gene coding for acid lipase is located on 10q23 and has been isolated. Many mutations have been identified. Acid lipase is a lysosomal enzyme playing a major role in catabolism of low-density lipoproteins. Its deficiency leads to a massive accumulation of cholesteryl esters and triglycerides in several tissues, causing two distinct biochemical phenotypes: the more severe Wolman's disease and the milder cholesterol ester storage disease. Both are transmitted as autosomal recessive traits.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-F. There is hyperlipidaemia/hypercholesterolemia (Very frequent sign). These laboratory findings are usually found: Acid cholesteryl ester hydrolase deficiency. Disseminated organ foam cell infiltration. Normal or moderately elevated plasma lipids. Hypercholesterolemia. Diffuse punctate adrenal calcification on plain films or ultrasound or CT of abdomen. Diagnosis is made by enzyme assay. The gene coding for acid lipase is located on 10q23 and has been isolated. Many mutations have been identified.