Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.

Authors

Gerald F Watts, Royal Perth Hospital, School of Medicine and Pharmacology, University of Western Australia, Australia
Samuel Gidding, duPont Hospital for Children and Jefferson Medical CollegeFollow
Anthony S Wierzbicki, Guy's & St Thomas Hospitals, NHS Foundation Trust, London, UK
Peter P Toth, University of Illinois College of Medicine
Rodrigo Alonso, Fundacion Jimenez Diaz, Madrid, Spain
W Virgil Brown, Emory University
Eric Bruckert, University of Paris VI
Joep Defesche, University of Amsterdam
Khoo Kah Lin, Pontai Medical Centre, Heart Foundation of Malaysia
Michael Livingston, The International FH Foundation, St Andrews Court, Thame, Oxfordshire, UK
Pedro Mata, Fundacion Hipercolesterolemia Familiar, Madrid, Spain
Klaus G Parhofer, Ludwig-Maximilians-University of Munich
Frederick J Raal, University of the Witwatersrand, Johannesburg, South Africa
Raul D Santos, University of Sao Paulo Medical School
Eric J G Sijbrands, Erasmus University, Rotterdam, The Netherlands
William G Simpson, University of Aberdeen, Aberdeen, Scotland, UK
David R Sullivan, University of Sydney
Andrey V Susekov, Cardiology Research Complex, Ministry of Health of Russian Federation
Brian Tomlinson, The Chinese University of Hong Kong
Albert Wiegman, University of Amsterdam
Shizuya Yamashita, Osaka University of Economics
John J P Kastelein, University of Amsterdam

Document Type

Article

Publication Date

2-15-2014

Comments

This article has been peer reviewed. It is the authors' final version prior to publication in Journal of the International Journal of Cardiology Volume 171, Issue 3, February 2014, Pages 309-325.

The published version is available at DOI: 10.1016/j.ijcard.2013.11.025.

Copyright © Elsevier Inc.

Abstract

Familial hypercholesterolaemia (FH) is a dominantly inherited disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL) cholesterol and causes premature coronary heart disease. There are at least 20million people with FH worldwide, but the majority remain undetected and current treatment is often suboptimal. To address this major gap in coronary prevention we present, from an international perspective, consensus-based guidance on the care of FH. The guidance was generated from seminars and workshops held at an international symposium. The recommendations focus on the detection, diagnosis, assessment and management of FH in adults and children, and set guidelines for clinical purposes. They also refer to best practice for cascade screening and risk notifying and testing families for FH, including use of genetic testing. Guidance on treatment is based on risk stratification, management of non-cholesterol risk factors, and safe and effective use of LDL lowering therapies. Recommendations are given on lipoprotein apheresis. The use of emerging therapies for FH is also foreshadowed. This international guidance acknowledges evidence gaps, but aims to make the best use of contemporary practice and technology to achieve the best outcomes for the care of FH. It should accordingly be employed to inform clinical judgement and be adjusted for country-specific and local health care needs and resources.

Recommended Citation

Watts, Gerald F; Gidding, Samuel; Wierzbicki, Anthony S; Toth, Peter P; Alonso, Rodrigo; Brown, W Virgil; Bruckert, Eric; Defesche, Joep; Lin, Khoo Kah; Livingston, Michael; Mata, Pedro; Parhofer, Klaus G; Raal, Frederick J; Santos, Raul D; Sijbrands, Eric J G; Simpson, William G; Sullivan, David R; Susekov, Andrey V; Tomlinson, Brian; Wiegman, Albert; Yamashita, Shizuya; and Kastelein, John J P, "Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation." (2014). Division of Cardiology Faculty Papers. Paper 42.
https://jdc.jefferson.edu/cardiologyfp/42

PubMed ID

24418289