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Chylomicronemia syndrome

Definition:

Chylomicronemia syndrome is a disorder passed down through families in which the body does not break down fats (lipids) correctly. This causes a type of fats called chylomicrons to build up in the blood.

Alternative Names:

Familial Lipoprotein Lipase Deficiency

Causes, incidence, and risk factors:

Chylomicronemia syndrome is a rare genetic disorder. It occurs when a protein (enzyme) called lipoprotein lipase (LpL) is broken or missing. The syndrome is also known as Familial Lipoprotein Lipase Deficiency.

LpL is normally found in fat and muscle and helps break down certain lipids. When LpL is missing or broken, substances called chylomicrons build up in the blood. This is called chylomicronemia.

References:

Benlian P, De Gennes JL, Foubert L, Zhang H, Gagne SE, Hayden M. Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene. N Engl J Med . 1997; 336 (14): 1026-1027.

Hepatomegaly

Review Date: 5/18/2007
Reviewed By: Benjamin W. Van Voorhees, MD, MPH, Assistant Professor of Medicine, Pediatrics, and Psychiatry, The University of Chicago, Chicago, IL. Review provided by VeriMed Healthcare Network.

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