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Review

Familial hypercholesterolemia: Detect, treat, and ask about family

Nishant P. Shah, MD, Haitham M. Ahmed, MD, MPH and W. H. Wilson Tang, MD
Cleveland Clinic Journal of Medicine February 2020, 87 (2) 109-120; DOI: https://doi.org/10.3949/ccjm.87a.19021
Nishant P. Shah
Duke Heart Center; Assistant Professor of Medicine in Cardiology, Duke University School of Medicine, Durham, NC
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  • For correspondence: nishant.shah@duke.edu
Haitham M. Ahmed
AdvantageCare Physicians, New York, NY
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W. H. Wilson Tang
Department of Cardiovascular Medicine, Department of Cellular and Molecular Medicine, Critical Care Center, and Transplantation Center, Heart and Vascular Institute, Cleveland Clinic; Professor, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH
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This article has a correction. Please see:

  • Familial hypercholesterolemia - May 01, 2020

CME/MOC

  • Release date: February 1, 2020
  • Expiration date: January 31, 2021
CME/MOC Accreditation Information.

ABSTRACT

Familial hypercholesterolemia is an autosomal dominant disorder that affects the metabolism of low-density lipoprotein cholesterol (LDL-C) through mutations in the gene for LDL receptor (LDLR), and less commonly in those for apolipoprotein B (APOB), proprotein convertase subtilisin-kexin type 9 (PCSK9), and others. Patients with these mutations have elevated plasma levels of LDL-C and, as a result, an increased risk of atherosclerotic cardiovascular disease beginning in childhood, leading to significant risk of illness and death.

Footnotes

  • Dr. Tang has disclosed serving as a consultant for MyoKardia and Sequana Medical.

  • Copyright © 2020 The Cleveland Clinic Foundation. All Rights Reserved.
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Cleveland Clinic Journal of Medicine: 87 (2)
Cleveland Clinic Journal of Medicine
Vol. 87, Issue 2
1 Feb 2020
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Familial hypercholesterolemia: Detect, treat, and ask about family
Nishant P. Shah, Haitham M. Ahmed, W. H. Wilson Tang
Cleveland Clinic Journal of Medicine Feb 2020, 87 (2) 109-120; DOI: 10.3949/ccjm.87a.19021

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Familial hypercholesterolemia: Detect, treat, and ask about family
Nishant P. Shah, Haitham M. Ahmed, W. H. Wilson Tang
Cleveland Clinic Journal of Medicine Feb 2020, 87 (2) 109-120; DOI: 10.3949/ccjm.87a.19021
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    • ABSTRACT
    • MUTATIONS IN LDLR AND OTHER GENES
    • ELEVATED RISK FROM AN EARLY AGE
    • WHEN TO SUSPECT IT
    • WHAT IS THE PATIENT’S RISK?
    • GENETIC TESTING IS THE GOLD STANDARD
    • CASCADE SCREENING OF RELATIVES
    • TREATMENT SHOULD START EARLY
    • WHAT DO THE GUIDELINES SAY?
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