Definition:
Cholesteryl ester storage disease results from storage of cholesteryl esters and triglycerides in the blood and lymph cells, as well as in the 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.

Cholesteryl esters are a transport form of cholesterol, and triglycerides are the chemical forms in which fats exist in the body. When these two substances accumulate, this build up damages blood and lymph cells as well as the lymphoid tissue, and leads to the symptoms that mark Cholesteryl ester storage disease.

Symptoms:
Children affected develop an enlarged liver. This symptom can lead to cirrhosis and chronic liver failure before adulthood. Calcium deposits may appear in the adrenal glands causing these glands to harden. Severe premature atherosclerosis, or the hardening of the arteries, may also develop. Jaundice may also develop late in disorder’s progression. Elevated levels of serum Low Density Lipoprotein (LDL), also known as the “bad cholesterol”, are also seen.

Inheritance Patterns:
Cholesteryl ester storage disease is an autosomal recessive disorder.

Life Expectancy:
Individuals afflicted with this disease live into adulthood. No further data regarding life expectancy is available.

Diagnosis and Testing:
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.

Treatment:
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 signs associated with this disorder.