familial hyperchylomicronemia
- familial hyperchylomicronemia
- an inherited disorder of lipoprotein metabolism characterized by elevated plasma chylomicrons and triglycerides and manifested clinically by episodic abdominal pain and pancreatitis, cutaneous xanthomas, lipemia retinalis, and hepatosplenomegaly. It is due to deficiency of lipoprotein lipase, caused by mutation in the LPL gene (locus: 8p22) and resulting in a type I hyperlipoproteinemia, or its cofactor apolipoprotein C-II, caused by mutation in the APOA5 gene (locus: 11q23) and resulting in a type V hyperlipoproteinemia. See table at hyperlipoproteinemia.
Medical dictionary.
2011.
Look at other dictionaries:
familial hyperchylomicronemia with hyperprebetalipoproteinemia — see familial h … Medical dictionary
familial apo C-II deficiency — familial apolipoprotein C II deficiency an autosomal recessive disorder caused by mutations in the APOC2 gene (locus: 19q13.2), leading to a lack of apo C II, a necessary cofactor for lipoprotein lipase. It results in familial… … Medical dictionary
familial hypertriglyceridemia — a genetically heterogenous, autosomal dominant disorder of lipoprotein metabolism characterized by mildly elevated triglycerides and very low density lipoproteins, thus having a type IV hyperlipoproteinemia phenotype but lacking other biochemical … Medical dictionary
hyperchylomicronemia — Increased plasma concentrations of chylomicrons. familial h. SYN: type I familial hyperlipoproteinemia. familial h. with hyperprebetalipoproteinemia SYN: type V familial hyperlipoproteinemia. * * * hy·per·chy·lo·mi·cro·ne·mia or chiefly Brit… … Medical dictionary
chylomicronemia syndrome — familial hyperchylomicronemia … Medical dictionary
hyperlipoproteinemia — An increase in the lipoprotein concentration of the blood. acquired h. nonfamilial h. that develops as a consequence of some primary disease, such as thyroid deficiency. familial h. a group of diseases c … Medical dictionary
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