Familial lipoprotein lipase deficiency is a group of rare genetic disorders in which a person lacks a protein needed to break down fat molecules. The disorder causes large amounts of fat to build up in the blood.

Type I hyperlipoproteinemia; Familial chylomicronemia

Familial lipoprotein lipase deficiency is usually caused by a defective gene that is passed down through families.

Persons with this condition lack an enzyme called lipoprotein lipase. Without this enzyme, the body cannot break down fat from digested food. Fat particles called chylomicrons build up in the blood.

Risk factors include a family history of lipoprotein lipase deficiency.

The disorder affects about 1 out of 1,000,000 people. The condition is usually first seen during infancy or childhood.

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Coronary artery disease

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Familial lipoprotein lipase deficiency Symptoms

Review Date: 05/29/2011
Reviewed By: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)