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

Gerald F. Watts, Samuel Gidding, Anthony S. Wierzbicki, Peter P. Toth, Rodrigo Alonso, W. Virgil Brown, Eric Bruckert, Joep Defesche, Khoo Kah Lin, Michael Livingston, Pedro Mata, Klaus G. Parhofer, Frederick J. Raal, Raul D. Santos, Eric J. G. Sijbrands, William G. Simpson, David R. Sullivan, Andrey V. Susekov, Brian Tomlinson, Albert WiegmanShizuya Yamashita, John J. P. Kastelein

Research output: Contribution to journalReview articleAcademicpeer-review

305 Citations (Scopus)

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 20 million 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
Original languageEnglish
Pages (from-to)309-325
JournalInternational journal of cardiology
Volume171
Issue number3
DOIs
Publication statusPublished - 2014

Cite this