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

Journal Article (Journal Article;Review)

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 (LDLR), and less commonly in those for apolipoprotein B (APOB), proprotein convertase subtili-sin-kexin type 9 (PCSK9), 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.

Full Text

Duke Authors

Cited Authors

  • Shah, NP; Ahmed, HM; Wilson Tang, WH

Published Date

  • February 2020

Published In

Volume / Issue

  • 87 / 2

Start / End Page

  • 109 - 120

PubMed ID

  • 32015064

Electronic International Standard Serial Number (EISSN)

  • 1939-2869

Digital Object Identifier (DOI)

  • 10.3949/ccjm.87a.19021


  • eng

Conference Location

  • United States