Familial hypercholesterolemia

Last revised by Daniel J Bell on 13 Dec 2022

Familial hypercholesterolemia is a common autosomal dominant 1 condition resulting in hyperlipidemia


1 in 200 individuals are estimated to be carriers of at least one gene associated with familial hypercholesterolemia 1.


Features of hyperlipidemia such as early/excessive atherosclerosis including coronary artery disease, and xanthoma formation.


Three mutations are classically associated with familial hypercholesterolemia 1:

  • LDL receptor (LDLR) in 85% of cases

  • ApoB protein (APOB) in 5-10% of cases

  • PCSK9 in 1-2% of cases

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