cholesteryl ester storage disease


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cho·les·ter·ol es·ter stor·age dis·ease

[MIM*278000]
a lipidosis caused by a deficiency of lysosomal acid lipase activity resulting in widespread accumulation of cholesterol esters and triglycerides in viscera with xanthomatosis, adrenal calcification, hepatosplenomegaly, foam cells in bone marrow and other tissues, and vacuolated lymphocytes in peripheral blood; autosomal recessive inheritance, caused by mutation in the lysosomal acid lipase gene (LIPA) on chromosome 10q.

cholesteryl ester storage disease

[kōles′təril]
an inherited disorder in which there is an accumulation of neutral lipids, such as cholesterol esters and glycerides, in body tissues. The disease may be asymptomatic or be characterized by hepatosplenomegaly, fat in the stools (steatorrhea), and adrenal calcification. The cause is a deficiency of the enzyme cholesterol ester hydrolase. There is no specific treatment. A form of the disorder affecting infants, with symptoms in the first weeks after birth, is Wolman's disease.

cholesteryl ester storage disease

An autosomal recessive MIM 27800 condition that is the late onset form of lysosomal acid lipase deficiency, which results in tissue accumulation of cholesterol esters and triglycerides.
 
Clinical findings
Hepatosplenomegaly, persistently abnormal LFTs and type-II hyperlipidemia. Untreated CESD leads to hepatic fibrosis, cirrhosis, liver failure and death.

Molecular pathology
Mutations in LIPA, which encodes lipase A (EC 3.1.1.3), are linked to CESD and Wolman disease.

cholesteryl ester storage disease

Cholesterol ester storage disease Molecular medicine An AR defect in lysosomal acid lipase activity, resulting in major tissue accumulation of cholesterol esters and TGs