Cholesterylesterspeicherkrankheit And Crohn Wolman

(Wolman Disease)

The Cholesterylesterspeicherkrankheit and Crohn Wolman are Sphingolipidoses, an inherited metabolic disorder caused by a deficiency of lysosomal acidic lipase, which leads to hyperlipidemia, and hepatomegaly.

For more information see Table sphingolipidosis and Table Other Lipoidosen.

The Cholesterylesterspeicherkrankheit and Crohn Wolman are Sphingolipidoses, an inherited metabolic disorder caused by a deficiency of lysosomal acidic lipase, which leads to hyperlipidemia, and hepatomegaly. For more information see Table sphingolipidosis and Table Other Lipoidosen. See also approach in a patient with suspected congenital metabolic disorder. In both cases, it is rare, autosomal recessive diseases that lead to the accumulation of cholesteryl esters and triglycerides, especially in the lysosomes of histiocytes and foam cells in the liver, cause spleen, lymph nodes and other tissues. Typically, the low-density lipoprotein LDL is increased. The infants die within 6 months. The disease Wolman is the more serious form, which manifests itself in the first few weeks by bad eating habits, vomiting and abdominal enlargement due to hepatosplenomegaly. The Cholesterylesterspeicherkrankheit is a less severe disorder that can also manifest itself until later in life. Sometimes it is discovered only in adulthood by hepatomegaly. often very pronounced – – premature atherosclerosis some cases, a developed. Diagnosis is based on clinical findings and a lack of acid lipase in a liver biopsy or cultured skin fibroblasts, lymphocytes or other tissues. Prenatal diagnosis is based on the lack of Säurelipaseaktivität in cultured chorionic villi. (See also check on suspicion of inherited metabolic disorders.) There is no proven effective therapy. Statins reduce the LDL levels, and in conjunction with a low-cholesterol diet, cholestyramine should lead to the relief of other symptoms.

Health Life Media Team

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