Diagnosis is based on clinical features and the demonstration of acid lipase deficiency in cultured skin fibroblasts, lymphocytes, or other tissues. There is no specific treatment, and death usually occurs by age 6 mo. An extremely rare autosomal recessive disease characterized by hepatomegaly and accumulation of cholesteryl esters and triglyceride, mainly in lysosomes in the liver, spleen, lymph nodes, and other tissues. Hyperbetalipoproteinemia is common, and premature atherosclerosis may be severe. Diagnosis is based on clinical features and the demonstration of acid lipase deficiency in liver biopsy specimens or cultured skin fibroblasts, lymphocytes, or other tissues.
Prenatal diagnosis is based on the absence of acid lipase activity in cultured chorionic villi.
Patients may be asymptomatic. There is no proven treatment. Recently, the suppression of cholesterol synthesis induced by HMG-CoA reductase inhibitors has been shown to reduce plasma LDL levels. Cholestyramine combined with a low-cholesterol diet has reportedly improved other signs. A rare recessive disorder of lipid metabolism characterized by progressive ataxia, dementia, cataracts, and tendon xanthomas.