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Genetic backgrounds and diagnosis of familial hypercholesterolemia

Joanna Rogozik1, Renata Główczyńska1, Marcin Grabowski1

  • 11st Department of Cardiology, Medical University of Warsaw, Warsaw, Poland.

Clinical Genetics
|October 18, 2023
PubMed

Insights

Familial hypercholesterolemia (FH) causes high LDL cholesterol due to genetic mutations. Genetic testing is useful but misses 20-40% of primary FH cases, highlighting the need for broader diagnostic approaches.

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Metabolic Disorders

Background:

  • Lipid disorders are key drivers of atherosclerosis, leading to coronary heart disease and stroke.
  • Familial hypercholesterolemia (FH) is an inherited condition causing severely elevated LDL cholesterol.
  • Common genetic causes include mutations in LDLR, APOB, and PCSK9 genes.

Purpose of the Study:

  • To review the role of lipid disorders in atherosclerosis.
  • To discuss the genetic basis of Familial hypercholesterolemia.
  • To highlight limitations in current genetic diagnostic methods for FH.

Main Methods:

  • Literature review of studies on lipid disorders, atherosclerosis, and FH genetics.
  • Analysis of genetic mutation data in FH patients.
  • Evaluation of diagnostic accuracy for genetic testing in FH.

Main Results:

  • Lipid disorders significantly contribute to atherosclerosis and related mortality.
  • FH is primarily caused by mutations in LDLR, APOB, or PCSK9.
  • Genetic testing fails to identify causative mutations in 20%-40% of clinically diagnosed FH cases.

Conclusions:

  • FH is a critical, genetically driven lipid disorder.
  • Current genetic testing is valuable but insufficient for diagnosing all FH cases.
  • Further research into genetic and non-genetic factors is needed for comprehensive FH diagnosis.

Keywords:
familial combined hyperlipidemiafamilial hypercholesterolemialow-density lipoprotein cholesterollow-density lipoprotein receptorproprotein convertase subtilisin/kexin type 9

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