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.

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