Familial Hyperchylomicronemia, also called Type I Dyslipidemia, is a rare genetic disease characterized by the build-up of chylomicrons, lipoproteins carrying dietary fat and cholesterol in the blood.
Familial Hyperchylomicronemia is caused by an autosomal recessive mutation in lipoprotein lipase, which normally functions with Apolipoprotein C-2 (Apo C-2) to cleave lipids and release free fatty acids. Chylomicrons may deposit in the skin, forming xanthomas and xanthelasmas. Other clinical features seen include hepatosplenomegaly, as well as a creamy "milk-like" supernatant in the blood (separated chylomicrons). An important complication of elevated blood triglycerides (from chylomicrons) is acute pancreatitis.
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