Chylomicronemia syndrome : Overview, Causes, & Risk Factors

Alternate Names : Familial lipoprotein lipase deficiency

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.

Overview, Causes, & Risk Factors

Chylomicronemia syndrome is a rare genetic disorder. It occurs when a protein (enzyme) called lipoprotein lipase (LpL) is broken or missing. LpL is normally found in fat and muscle and helps break down certain lipids. When LpL is missing or broken, chylomicrons build up in the blood. This is called chylomicronemia.

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Hepatomegaly

Hepatomegaly is enlargement of the liver beyond its normal size. Certain conditions such as infection, parasites, tumors, anemias, toxic states, storage diseases, heart failure, congenital heart disease, and metabolic disturbances may all cause an enlarged liver.


Review Date : 1/23/2008
Reviewed By : Glenn Gandelman, MD, MPH, Assistant Clinical Professor of Medicine, New York Medical College, Valhalla, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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