Genetic Lipid Disorders Associated with Atherosclerotic Cardiovascular Disease: Molecular Basis to Clinical Diagnosis and Epidemiologic Burden

Med Clin North Am. 2022 Mar;106(2):325-348. doi: 10.1016/j.mcna.2021.11.009. Epub 2022 Feb 10.

Abstract

Genetic lipid disorders, ranging from common dyslipidemias such as familial hypercholesterolemia, lipoprotein (a), and familial combined hyperlipidemia to rare disorders including familial chylomicronemia syndrome and inherited hypoalphalipoproteinemias (ie, Tangier and fish eye diseases), affect millions of individuals in the United States and tens of millions around the world and are often undiagnosed in the general population. Clinicians should take into consideration the potential of inherited lipid disorders or syndromes when severe derangements in lipid parameters are observed. Patients' combined genotype and phenotype should be evaluated in conjunction with a host of environmental factors impacting their risk of atherosclerotic cardiovascular disease.

Keywords: Atherosclerosis; Cardiovascular disease; Genetics; Hypercholesterolemia; Lipids.

Publication types

  • Review

MeSH terms

  • Atherosclerosis* / diagnosis
  • Atherosclerosis* / epidemiology
  • Atherosclerosis* / genetics
  • Cardiovascular Diseases* / complications
  • Dyslipidemias* / epidemiology
  • Dyslipidemias* / genetics
  • Humans
  • Hyperlipoproteinemia Type I* / complications
  • Lipids
  • Risk Factors
  • United States / epidemiology

Substances

  • Lipids