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Cholesteryl ester storage disease is an rare autosomal recessive lysosomal storage disease that results from storage of cholesteryl esters and triglycerides in cells in the blood and lymph and lymphoid tissue. This build up occurs because lysosomal acid lipase, the essential enzyme to break down triglycerides and cholesteryl esters in lysosomes, is deficient. Although there is a build up of both triglycerides and cholesteryl esters in cholesteryl ester storage disease, there is a greater accumulation of cholesteryl esters than triglycerides.
Children with cholesteryl ester storage disease develop an enlarged liver (hepatomegaly) leading to cirrhosis and chronic liver failure before adulthood. Severe premature atherosclerosis, or the hardening of the arteries, may also develop. Children may also have calcium deposits in the adrenal glands and jaundice may also develop late in the disorder. Elevated levels of serum Low Density Lipoprotein (LDL) are also seen.
Diagnosis is based on the clinical features of this disorder as well as performing an enzyme assay which looks for a deficiency of the enzyme acid lipase in liver cells, cultured white blood cells, or tissues specimens. A Prenatal diagnosis can also be performed to determine if there is an absence of acid lipase activity in the fetus.
There is no disease modifying treatment for Cholesteryl ester storage disease. Combining drugs that reduce blood cholesterol with a low cholesterol diet has been effective at reducing some of the symptoms associated with this genetic disorder.
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