Familial Hyperchylomicronemia USMLE Preview

Familial hyperchylomicronemia, also known as type I hyperlipoproteinemia, is an autosomal recessive disorder that’s characterized by high levels of chylomicrons. It is caused by homozygous mutations in lipoprotein lipase or its cofactor Apo C-II, which together normally cleave and release the chylomicrons’ triglyceride contents. Since chylomicrons carry
triglycerides, hypertriglyceridemia is therefore a hallmark of the disease. High triglyceride levels are also a common cause of pancreatitis, which therefore may also be seen. Other findings include xanthomas, hepatosplenomegaly, and a creamy supernatant layer in blood samples.

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