Chylomicronemia syndrome

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Hepatomegaly

Chylomicronemia syndrome is an inherited disorder in which abnormal lipid (fat) metabolism causes chylomicrons (a type of lipids) to accumulate to massive levels in the blood.

Familial Lipoprotein Lipase Deficiency

Chylomicronemia syndrome results from impaired or absent lipoprotein lipase (LPL), an enzyme in fat and muscle responsible for the breakdown of certain lipids. In addition to familial lipoprotein lipase deficiency, a large accumulation of chylomicrons may also be seen in people with familial apoprotein CII deficiency.

Review Date: 06/03/2005
Reviewed By: Thomas A. Owens, M.D., Departments of Internal Medicine and Pediatrics, Duke University Medical Center, Durham, NC. Review provided by VeriMed Healthcare Network.