Familial lipoprotein lipase deficiency

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Coronary artery disease

Familial lipoprotein lipase deficiency is a group of rare genetic disorders characterized by deficient activity of an enzyme (lipoprotein lipase) that breaks down fat molecules, causing the accumulation of large quantities of fat (lipoproteins) in the blood.

Type I hyperlipoproteinemia; Familial chylomicronemia

A defective gene is usually the cause of this disorder, which is inherited in an autosomal recessive manner. Blood tests show a high level of chylomicrons, a lipoprotein that carries fat from digested food into the blood stream. The chylomicrons are not broken down properly because of the deficiency of the lipoprotein lipase enzyme. This results in a build-up of fat-laden chylomicrons in the blood. Skin lesions (xanthomas) form as a result of deposits of these chylomicrons in the skin. There is inflammation of the pancreas and resulting abdominal pain.

Risk factors are a family history of lipoprotein lipase deficiency, very high triglycerides in the blood, multiple unexplained episodes of pancreatitis, and failure to thrive in infancy. The incidence is 1 out of 1,000,000 people. The disease usually shows up in infancy or early childhood.

Review Date: 04/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.