Familial hypercholesterolemia: Detect, treat, and ask about family.

Abstract

Familial hypercholesterolemia is an autosomal dominant disorder that affects the metabolism of low-density lipo-protein cholesterol (LDL-C) through mutations in the gene for LDL receptor (<i>LDLR</i>), and less commonly in those for apolipoprotein B (<i>APOB</i>), proprotein convertase subtili-sin-kexin type 9 (<i>PCSK9</i>), and others. Patients with these mutations have elevated plasma levels of LDL-C and, as a result, an increased risk of atherosclerotic cardiovascular disease beginning in childhood, leading to significant risk of illness and death.