title: Integrated guidance on the care of familial hypercholesterolemia from the International FH Foundation.
abstract: 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.
authors.affiliation: Cardiometabolic Service, Department of Internal Medicine, Royal Perth Hospital, School of Medicine and Pharmacology, The University of Western Australia, GPO Box X2213, Perth, WA 6847, Australia. Electronic address: gerald.watts@uwa.edu.au.
authors.forename: Gerald F
authors.initials: GF
authors.lastname: Watts
authors.affiliation: Cardiology Division, Nemours Cardiac Center, A. I. duPont Hospital for Children, Wilmington, DE, USA; Jefferson Medical College, Philadelphia, PA, USA.
authors.forename: Samuel
authors.initials: S
authors.lastname: Gidding
authors.affiliation: Department of Metabolic Medicine and Chemical Pathology, Guy's & St Thomas Hospitals, NHS Foundation Trust, London, UK.
authors.forename: Anthony S
authors.initials: AS
authors.lastname: Wierzbicki
authors.affiliation: CGH Medical Centre, Sterling, IL, USA; University of Illinois College of Medicine, Peoria, IL, USA; Illinois Michigan State University College of Osteopathic Medicine, East Lansing, MI, USA.
authors.forename: Peter P
authors.initials: PP
authors.lastname: Toth
authors.affiliation: Lipid Clinic, Department of Internal Medicine, Fundacion Jimenez Diaz, Madrid, Spain.
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Alonso
authors.affiliation: Emory University School of Medicine, Emory University, Atlanta, GA, USA.
authors.forename: W Virgil
authors.initials: WV
authors.lastname: Brown
authors.affiliation: Department of Endocrinology and Prevention of Cardiovascular Disease, Hôpital Pitié-Salpêtrière, University of Paris VI, Paris, France.
authors.forename: Eric
authors.initials: E
authors.lastname: Bruckert
authors.affiliation: Laboratory for Experimental Vascular Medicine, Section of Molecular Diagnostics, Academic Medical Centre, University of Amsterdam, The Netherlands.
authors.forename: Joep
authors.initials: J
authors.lastname: Defesche
authors.affiliation: Pontai Medical Centre, Heart Foundation of Malaysia, Kuala Lumpur, Malaysia.
authors.forename: Khoo Kah
authors.initials: KK
authors.lastname: Lin
authors.affiliation: The International FH Foundation, St Andrews Court, Thame, Oxfordshire, UK.
authors.forename: Michael
authors.initials: M
authors.lastname: Livingston
authors.affiliation: Fundacion Hipercolesterolemia Familiar, Madrid, Spain.
authors.forename: Pedro
authors.initials: P
authors.lastname: Mata
authors.affiliation: Medical Department 2, Division of Metabolism and Endocrinology, Ludwig- Maximilians-University of Munich, Munich, Germany.
authors.forename: Klaus G
authors.initials: KG
authors.lastname: Parhofer
authors.affiliation: Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
authors.forename: Frederick J
authors.initials: FJ
authors.lastname: Raal
authors.affiliation: Lipid Clinic Heart Institute (InCor), University of Sao Paulo Medical School, University of Sao Paulo, Sao Paulo, Brazil.
authors.forename: Raul D
authors.initials: RD
authors.lastname: Santos
authors.affiliation: Section of Pharmacology, Vascular and Metabolic Diseases, Department of Internal Medicine, Erasmus Medical Center, Erasmus University, Rotterdam, The Netherlands.
authors.forename: Eric J G
authors.initials: EJ
authors.lastname: Sijbrands
authors.affiliation: Department of Clinical Biochemistry, Aberdeen Royal Infirmary, University of Aberdeen, Aberdeen, Scotland.
authors.forename: William G
authors.initials: WG
authors.lastname: Simpson
authors.affiliation: Lipid Clinic and Department of Biochemistry, Royal Prince Alfred Hospital, University of Sydney, Sydney, New South Wales, Australia.
authors.forename: David R
authors.initials: DR
authors.lastname: Sullivan
authors.affiliation: Laboratory of Clinical Lipidology, Department of Atherosclerosis, Cardiology Research Complex, Ministry of Health of Russian Federation, Moscow, Russia.
authors.forename: Andrey V
authors.initials: AV
authors.lastname: Susekov
authors.affiliation: Division of Clinical Pharmacology, Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong SAR, The People's Republic of China.
authors.forename: Brian
authors.initials: B
authors.lastname: Tomlinson
authors.affiliation: Department of Paediatrics, Academic Medical Centre, University of Amsterdam, The Netherlands.
authors.forename: Albert
authors.initials: A
authors.lastname: Wiegman
authors.affiliation: Department of Community Medicine and Cardiovascular Medicine, Osaka University Graduate School of Medicine, Osaka University, Japan; Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Osaka University, Japan.
authors.forename: Shizuya
authors.initials: S
authors.lastname: Yamashita
authors.affiliation: Department of Vascular Medicine, Academic Medical Centre, University of Amsterdam, The Netherlands.
authors.forename: John J P
authors.initials: JJ
authors.lastname: Kastelein
mesh_terms: D000328:Adult; D000924:Anticholesteremic Agents / Q000008:administration & dosage; D002648:Child; D008078:Cholesterol, LDL / Q000378:metabolism*; D003362:Cost-Benefit Analysis; D005820:Genetic Testing; D017408:Guidelines as Topic; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000378:metabolism / Q000473:pathology* / Q000628:therapy*; D008077:Lipoproteins, LDL / Q000378:metabolism*; D012307:Risk Factors
chemical_list: D000924:Anticholesteremic Agents; D008078:Cholesterol, LDL; D008077:Lipoproteins, LDL
keywords: Adults; Assessment; Children; Diagnosis; Familial hypercholesterolemia; International guidance; Models of care; Screening; Treatment