Primary genetic disorders affecting high density lipoprotein (HDL)

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.