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Int J Cardiol. 2014 Feb 15;171(3):309-25. doi: 10.1016/j.ijcard.2013.11.025. Epub 2013 Nov 20.

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

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Cardiometabolic Service, Cardiovascular Medicine, Royal Perth Hospital, School of Medicine and Pharmacology, University of Western Australia, Australia. Electronic address:
Cardiology Division, Nemours Cardiac Center, A. I. duPont Hospital for Children, Wilmington, DE, USA; Jefferson Medical College, Philadelphia, PA, USA.
Department of Metabolic Medicine and Chemical Pathology, Guy's & St Thomas Hospitals, NHS Foundation Trust, London, UK.
CGH Medical Centre, Sterling Illinois, University of Illinois College of Medicine, Peoria, USA; Illinois Michigan State University College of Osteopathic Medicine, East Lansing, MI, USA.
Lipid Clinic, Department of Internal Medicine, Fundacion Jimenez Diaz, Madrid, Spain.
Emory University School of Medicine, Emory University, Atlanta, GA, USA.
Department of Endocrinology and Prevention of Cardiovascular Disease, Hôpital Pitié-Salpêtrière, University of Paris VI, Paris, France.
Laboratory for Experimental Vascular Medicine, Section of Molecular Diagnostics, Academic Medical Centre, University of Amsterdam, The Netherlands.
Pontai Medical Centre, Heart Foundation of Malaysia, Kuala Lumpur, Malaysia.
The International FH Foundation, St Andrews Court, Thame, Oxfordshire, UK.
Fundacion Hipercolesterolemia Familiar, Madrid, Spain.
Medical Department 2, Division of Metabolism and Endocrinology, Ludwig-Maximilians-University of Munich, Munich, Germany.
Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Lipid Clinic Heart Institute (InCor), University of Sao Paulo Medical School, University of Sao Paulo, Brazil.
Section of Pharmacology, Vascular and Metabolic Diseases, Department of Internal Medicine, Erasmus Medical Center, Erasmus University, Rotterdam, The Netherlands.
Department of Clinical Biochemistry, Aberdeen Royal Infirmary, University of Aberdeen, Aberdeen, Scotland, UK.
Lipid Clinic and Department of Biochemistry, Royal Prince Alfred Hospital, University of Sydney, New South Wales, Australia.
Laboratory of Clinical Lipidology, Department of Atherosclerosis, Cardiology Research Complex, Ministry of Health of Russian Federation, Moscow, Russia.
Division of Clinical Pharmacology, Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China.
Department of Paediatrics, Academic Medical Centre, University of Amsterdam, The Netherlands.
Department of Community Medicine, Osaka University Graduate School of Medicine, Osaka University, Japan; Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Osaka University, Japan.
Department of Vascular Medicine, Academic Medical Centre, University of Amsterdam, The Netherlands.


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.


Assessment; Diagnosis; Familial hypercholesterolaemia; Models of care; Screening; Treatment

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