Primary genetic disorders affecting high density lipoprotein (HDL)

Article Details

Authors
Constantine E Kosmas MD, PhD, Delia Silverio MD, Andreas Sourlas, Frank Garcia MD, Peter D Montan MD, Eliscer Guzman MD

Article Type
Review

DOI
10.7573/dic.212546

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Abstract

There is extensive evidence demonstrating that there is a clear inverse correlation between plasma high density lipoprotein cholesterol (HDL-C) concentration and cardiovascular disease (CVD). On the other hand, there is also extensive evidence that HDL functionality plays a very important role in atheroprotection. Thus, genetic disorders altering certain enzymes, lipid transfer proteins, or specific receptors crucial for the metabolism and adequate function of HDL, may positively or negatively affect the HDL-C levels and/or HDL functionality and subsequently either provide protection or predispose to atherosclerotic disease. This review aims to describe certain genetic disorders associated with either low or high plasma HDL-C and discuss their clinical features, associated risk for cardiovascular events, and treatment options.

Keywords: apolipoprotein A-I (ApoA-I), cardiovascular disease (CVD), genetic disorders, high density lipoprotein (HDL).

Citation: Kosmas CE, Silverio D, Sourlas A, Garcia F, Montan PD, Guzman E. Primary genetic disorders affecting high density lipoprotein (HDL). Drugs in Context 2018; 7: 212546. DOI: 10.7573/dic.212546

Contributions:

Disclosure and potential conflicts of interest: Constantine E Kosmas and Eliscer Guzman are members of the Dyslipidemia Speaker Bureau of Amgen, Inc. The International Committee of Medical Journal Editors (ICMJE) Potential Conflicts of Interests form for the authors are available for download at https://www.drugsincontext.com/wp-content/uploads/2018/09/dic.212546-COI.pdf

Funding declaration: There was no funding associated with the preparation of this article.

Copyright: Copyright © 2018 Kosmas CE, Silverio D, Sourlas A, Garcia F, Montan PD, Guzman E. Published by Drugs in Context under Creative Commons License Deed CC BY NC ND 4.0 which allows anyone to copy, distribute, and transmit the article provided it is properly attributed in the manner specified below. No commercial use without permission.

Correct attribution: Copyright © 2018 Kosmas CE, Silverio D, Sourlas A, Garcia F, Montan PD, Guzman E. https://doi.org/10.7573/dic.212546. Published by Drugs in Context under Creative Commons License Deed CC BY NC ND 4.0.

Article URL: https://www.drugsincontext.com/primary-genetic-disorders-affecting-high-density-lipoprotein-hdl

Correspondence: Constantine E Kosmas, 168–24 Powells Cove Blvd, Beechhurst, NY 11357, USA. cekosmas1@gmail.com

Provenance: invited; externally peer reviewed.

Submitted: 17 June 2018; Peer review comments to author: 9 August 2018; Revised manuscript received: 21 August 2018; Accepted: 22 August 2018; Publication date: 18 September 2018.

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