Hyperchylomicronemia

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.

Find Familial Hyperchylomicronemia and more Dyslipidemias among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.