The familial chylomicronemia syndrome.
The chylomicronemia syndrome is a disorder characterized by severe hypertriglyceridemia and fasting chylomicronemia. Genetic causes of the syndrome are rare and include deficiency of lipoprotein lipase (LPL), apolipoprotein C-II, and familial inhibitor of LPL. Patients with familial forms of hypertriglyceridemia in combination with secondary acquired disorders account for most individuals presenting with chylomicronemia. The clinical manifestations--lipid and other biochemical abnormalities--as well as treatment options for chylomicronemic patients are discussed.
Santamarina-Fojo
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Section of Molecular Biology, Molecular Disease Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland, USA.
D053304:Apolipoprotein C-II; D001056:Apolipoproteins C / Q000172:deficiency / Q000235:genetics; D002914:Chylomicrons / Q000097:blood* / Q000235:genetics; D006801:Humans; D015228:Hypertriglyceridemia / Q000235:genetics* / Q000628:therapy; D008071:Lipoprotein Lipase / Q000037:antagonists & inhibitors / Q000172:deficiency / Q000235:genetics; D009154:Mutation
D053304:Apolipoprotein C-II; D001056:Apolipoproteins C; D002914:Chylomicrons; D008071:Lipoprotein Lipase