Cholesteryl ester storage disease

Overview

Type of disease: Rare conditions

Cholesteryl ester storage disease (CESD) is a group of genetic conditions in which the body has difficulty breaking down and using fats and cholesterol (known as lipid metabolism). CESD groups together the milder forms conditions caused by lysosomal acid lipase deficiency. Wolman syndrome is the more severe form. In these disorders, the body does make enough of the acid lipase enzyme (a protein) and therefore fats and cholesterol are not processed correctly. This results is the accumulation of fats and cholesterol in various parts of the body. The liver is most severely affected and enlargement of the liver is one of the first signs of this disorder. Fatty deposits on the walls of the arteries (atherosclerosis or hardening of the arteries) may be seen early in life, increasing a person’s risk for heart attack and stroke. Other symptoms include high lipid (fats) levels in the blood, enlarged spleen and liver cirrhosis. The symptoms of CESD are highly variable and are usually benign, meaning the symptoms do not cause problems or become worse over time. Some individuals are not diagnosed until adulthood, though most often symptoms begin around ages 10-12. Wolman syndrome, by contrast, begins in infancy (see also Wolman disease.).

Diagnosis is made by testing the levels of acid lipase. Genetic testing may also be used. Although there is currently no cure for CESD, treatments include a low cholesterol diet and medications to reduce cholesterol levels in the blood. If you or a family member has been diagnosed with CESD, talk with your doctor or specialist about the most current treatment options.

CESD (and Wolman syndrome) are caused by mutations or changes in the acid lipase gene (LAL or LAL) and is inherited in an autosomal recessive manner. Speak with a genetic counselor or specialist for more information.

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