Chylomicronemia syndrome

Definition:
An inherited disorder associated with abnormal lipid (fat) metabolism in which chylomicrons (a type of lipids) accumulate to massive levels in the plasma.

Alternative Names:
Familial Lipoprotein Lipase Deficiency

Causes, incidence, and risk factors:
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: 11/16/2001
Reviewed By: Sarah Pressman Lovinger, M.D., General Internist at Boston Medical Center, Boston, MA. Review provided by VeriMed Healthcare Network.

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