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

Gerald Watts, S.S. Gidding, A.S. Wierzbicki, P.P. Tóth, R.M. Alonso, W.V. Brown, E. Bruckert, J.C. Defesche, K. Lin, M.C.P. Livingston, P. Mata, K.G. Parhofer, F.J. Raal, R.D. Santos, E.J. Sijbrands, W.G. Simpson, D.R. Sullivan, A.V. Susekov, B.T. Tomlinson, A. WiegmanS. Yamashita, J.J.P. Kastelein

    Research output: Contribution to journalReview article

    95 Citations (Scopus)


    Familial hypercholesterolemia (FH) is a dominantly inherited disorder present from birth that markedly elevates plasma low-density lipoprotein cholesterol and causes premature coronary heart disease. There are at least 20 million people with FH worldwide, but the majority remains 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 noncholesterol risk factors, and the safe and effective use of low-density lipoprotein-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 used to inform clinical judgment and be adjusted for country-specific and local healthcare needs and resources. © 2014 National Lipid Association.
    Original languageEnglish
    Pages (from-to)148-172
    JournalJournal of Clinical Lipidology
    Issue number2
    Publication statusPublished - 2014


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