Familial hypercholesterolemia: Detect, treat, and ask about family

Cleve Clin J Med. 2020 Feb;87(2):109-120. doi: 10.3949/ccjm.87a.19021.

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 (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.

Publication types

  • Review

MeSH terms

  • Antibodies, Monoclonal, Humanized / therapeutic use
  • Anticholesteremic Agents / therapeutic use*
  • Genetic Testing
  • Humans
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors / therapeutic use*
  • Hyperlipoproteinemia Type II / diagnosis*
  • Hyperlipoproteinemia Type II / drug therapy*
  • Hyperlipoproteinemia Type II / genetics
  • Medical History Taking
  • PCSK9 Inhibitors*
  • Practice Guidelines as Topic
  • Receptors, LDL / genetics
  • Risk Assessment

Substances

  • Antibodies, Monoclonal, Humanized
  • Anticholesteremic Agents
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors
  • LDLR protein, human
  • PCSK9 Inhibitors
  • Receptors, LDL
  • PCSK9 protein, human
  • evolocumab
  • alirocumab