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Recommendations for the Management of Patients with Familial Hypercholesterolemia

Current Atherosclerosis Reports volume 17, Article number: 473 (2015) Cite this article

Abstract

Familial hypercholesterolemia (FH), characterized by congenitally elevated low-density lipoprotein cholesterol levels, is estimated to affect 20 million people worldwide. In patients with heterozygous FH, coronary artery disease manifests in about half of men by age 50 and one third of women by age 60, while homozygous FH patients often suffer coronary events in the first or second decade of life. Early diagnosis and aggressive treatment are paramount. However, many FH patients remain undiagnosed and/or inadequately treated. There is a considerable need for more effective screening and diagnosis of FH in the United States. Our objective herein is to provide concise overviews of how to screen for and diagnose FH and summarize international consensus recommendations for managing adults and children with available treatments.

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Acknowledgments

SSM is supported by the Pollin Cardiovascular Prevention Fellowship, Marie-Josee and Henry R. Kravis endowed fellowship, and a National Institutes of Health training grant (T32HL07024). RSB is supported by the Kenneth Jay Pollin professorship in cardiology.

Funding

The authors did not receive any dedicated funding to write this article.

Compliance with Ethics Guidelines

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Conflict of Interest

David I. Feldman, Roger S. Blumenthal, and Laurence S. Sperling declare that they have no conflict of interest.

Michael J. Blaha received personal fees for participation in round table discussion of future of PCSK9 inhibition.

Raul D. Santos received honoraria for consulting or speaker activities from Astra Zeneca, Amgen, Aegerion, Biolab, Genzyme, Sanofi/Regeneron, Boehringer Ingleheim, Bristol Myers Squibb, Novo Nordisk, Novartis, Pfizer, Nestle, Unilever, and Merck.

Steve R. Jones has a patent pending for novel method for estimation of LDL cholesterol.

Peter P. Toth received personal fees from Amarin, Amgen, AstraZeneca, Kowa, Genzyme, Regeneron, and Merck.

Seth S. Martin is listed as a co-inventor on a pending patent filed by the Johns Hopkins University for a method of LDL-C estimation.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

Author information

Affiliations

  1. Johns Hopkins Ciccarone Center for the Prevention of Heart Disease, Baltimore, MD, USA

    David I. Feldman, Michael J. Blaha, Steve R. Jones, Roger S. Blumenthal, Peter P. Toth & Seth S. Martin

  2. Heart Institute (InCor), University of Sao Paulo Medical School Hospital, Sao Paulo, Brazil

    Raul D. Santos

  3. Preventive Cardiology, CGH Medical Center, Sterling, IL, USA

    Peter P. Toth

  4. Division of Cardiology, Department of Medicine, Emory University School of Medicine, Atlanta, GA, USA

    Laurence S. Sperling

  5. Johns Hopkins Hospital, 600 North Wolfe Street, Blalock 501, Baltimore, MD, 21287, USA

    David I. Feldman

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  1. David I. Feldman
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Correspondence to David I. Feldman.

Additional information

This article is part of the Topical Collection on New Drugs Approved for Homozygous FH

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Feldman, D.I., Blaha, M.J., Santos, R.D. et al. Recommendations for the Management of Patients with Familial Hypercholesterolemia. Curr Atheroscler Rep 17, 473 (2015). https://doi.org/10.1007/s11883-014-0473-6

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  • DOI: https://doi.org/10.1007/s11883-014-0473-6

Keywords

  • Familial hypercholesterolemia
  • Atherosclerosis
  • LDL
  • Screening
  • Diagnosis
  • Assessment
  • Treatment
  • Guidelines