This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Cholesteryl ester storage disease is is a type of lysosomal acid lipase deficiency. It is an inherited disease that causes a buildup of fats (lipids) in the tissues and organs of the body and calcium deposits in the adrenal glands. The liver is most severely affected in most cases. Some people with cholesteryl ester storage disease may develop liver cirrhosis that progresses to liver failure. People with cholesteryl ester storage disease may also build up fatty deposits on the artery walls (atherosclerosis). This buildup can narrow the arteries and increase the risk for heart attack or stroke. Cholesteryl ester storage disease is caused by mutations in the LIPA gene. It is inherited in an autosomal recessive manner. Enzyme replacement therapy is available for the treatment of lysosomal acid lipase deficiencies, including cholesteryl ester storage disease, in the United States, the European Union, and Japan. A low cholesterol diet may also be helpful.
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