Cholesteryl ester storage disease

Other Names:

CESD; Cholesterol ester hydrolase deficiency; Cholesterol ester storage disease

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.

cause

Cholesteryl ester storage disease is caused by mutations in the LIPA gene.

Inheritance

Autosomal recessive inheritance, a 25% chance

It is inherited in an autosomal recessive manner.

Symptoms

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Hepatomegaly(Enlarged liver)

30%-79% of people have these symptoms

• Arteriosclerosis
• Diarrhea(Watery stool)
• Hepatic failure(Liver failure)
• Hypercholesterolemia(Elevated serum cholesterol)
• Hypertriglyceridemia(Increased plasma triglycerides)
• Nausea and vomiting
• Splenomegaly(Increased spleen size)

5%-29% of people have these symptoms

• Adrenal calcification
• Cirrhosis(Scar tissue replaces healthy tissue in the liver)
• Esophageal varix(Enlarged vein in esophagus)
• Jaundice(Yellow skin)
• Pruritus(Itching)

Diagnosis

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers.

Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment

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.

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition.

Sebelipase alfa (Brand name: Kanuma)Indicated for the treatment of patients with a diagnosis of lysosomal acid Lipase (LAL) deficiency.

Cholesteryl ester storage disease Resources
Latest articles Most recent articles Ongoing trials	Wikipedia

NIH genetic and rare disease info

• NIH info on Cholesteryl ester storage disease

Cholesteryl ester storage disease is a rare disease.