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Familial lipoprotein lipase deficiency

• Overview
• Symptoms
• Treatment
• Prevention

Definition:

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.

Alternative Names:

Type I hyperlipoproteinemia; Familial chylomicronemia

Causes, incidence, and risk factors:

Familial lipoprotein lipase deficiency is usually caused by a defective gene. The gene is passed down through families in an autosomal recessive manner.

Persons with this condition do not have a substance called lipoprotein lipase. Without this, the body cannot break down fat from digested food. Fat particles called chylomicrons build up in the blood.

Risk factors include:

• Family history of lipoprotein lipase deficiency
• Very high triglycerides in the blood
• Multiple unexplained episodes of pancreatitis
• Failure to thrive in infancy

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

• Review Date: 5/16/2007
• Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.

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