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Primary genetic disorders affecting high density lipoprotein (HDL).

Constantine E Kosmas1, Delia Silverio2, Andreas Sourlas3

  • 1Division of Cardiology, Department of Medicine, Mount Sinai Hospital, New York, NY, USA.

Drugs in Context
|September 15, 2018
PubMed
Summary

Genetic disorders impact high-density lipoprotein cholesterol (HDL-C) levels and function, influencing cardiovascular disease (CVD) risk. This review explores these genetic links and their clinical implications.

Keywords:
apolipoprotein A-I (ApoA-I)cardiovascular disease (CVD)genetic disordershigh density lipoprotein (HDL)

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Area of Science:

  • Cardiovascular Science
  • Genetics
  • Metabolic Disorders

Background:

  • High-density lipoprotein cholesterol (HDL-C) concentration shows a clear inverse correlation with cardiovascular disease (CVD).
  • HDL functionality is crucial for atheroprotection, complementing cholesterol levels.
  • Genetic factors significantly influence HDL metabolism, function, and subsequent cardiovascular risk.

Purpose of the Study:

  • To review genetic disorders affecting HDL-C levels and/or functionality.
  • To discuss the clinical features and cardiovascular event risks associated with these disorders.
  • To explore potential treatment strategies for genetic conditions impacting HDL.

Main Methods:

  • Literature review of genetic disorders impacting HDL metabolism and function.
  • Analysis of clinical features and cardiovascular outcomes in affected individuals.
  • Synthesis of current understanding regarding HDL genetics and CVD risk.

Main Results:

  • Certain genetic disorders are associated with significantly low or high plasma HDL-C concentrations.
  • Alterations in HDL-related genes can lead to impaired HDL functionality and increased atherosclerotic disease risk.
  • Conversely, some genetic variations may confer protection against cardiovascular events.

Conclusions:

  • Genetic disorders play a pivotal role in determining both HDL-C levels and functionality.
  • Understanding these genetic influences is key to assessing an individual's predisposition to cardiovascular disease.
  • Targeted management and future therapeutic strategies may benefit from insights into HDL-related genetic conditions.