Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.
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 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 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 judgment and be adjusted for country-specific and local healthcare needs and resources.
Cardiometabolic Service, Royal Perth Hospital, School of Medicine and Pharmacology, University of Western Australia gerald.watts@uwa.edu.au.
Gerald F
GF
Watts
Cardiology Division, Nemours Cardiac Nemours Cardiac Center, AI duPont Hospital for Children, Wilmington, and Jefferson Medical College, Philadelphia, USA.
Samuel
S
Gidding
Guy's and St Thomas' Hospitals, NHS Foundation Trust, London, UK.
Anthony S
AS
Wierzbicki
CGH Medical Centre, Sterling, University of Illinois College of Medicine, Peoria, and Illinois Michigan State University College of Osteopathic Medicine, East Lansing, USA.
Peter P
PP
Toth
Lipid Clinic, Fundacion Jimenez Diaz, Madrid, Spain.
Rodrigo
R
Alonso
Emory University School of Medicine, Emory University, Atlanta, USA.
W Virgil
WV
Brown
Hôpital Pitié-Salpêtrière, University of Paris VI, France.
Eric
E
Bruckert
Laboratory for Experimental Vascular Medicine, Section of Molecular Diagnostics, Academic Medical Centre, University of Amsterdam, The Netherlands.
Joep
J
Defesche
Pontai Medical Centre, Heart Foundation of Malaysia, Kuala Lumpur, Malaysia.
Khoo Kah
KK
Lin
The International FH Foundation, St Andrews Court, Thame, UK.
Michael
M
Livingston
Fundacion Hipercolesterolemia Familiar, Madrid, Spain.
Pedro
P
Mata
Division of Metabolism and Endocrinology, Ludwig-Maximilians-University of Munich, Germany.
Klaus G
KG
Parhofer
Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Frederick J
FJ
Raal
Lipid Clinic Heart Institute (InCor), University of Sao Paulo Medical School, University of Sao Paulo, Brazil.
Raul D
RD
Santos
Section of Pharmacology, Vascular and Metabolic Diseases, Erasmus Medical Centre, Erasmus University, Rotterdam, The Netherlands.
Eric J G
EJ
Sijbrands
Aberdeen Royal Infirmary, University of Aberdeen, UK.
William G
WG
Simpson
Lipid Clinic, Royal Prince Alfred Hospital, University of Sydney, Australia.
David R
DR
Sullivan
Laboratory of Clinical Lipidology, Ministry of Health of Russian Federation, Moscow, Russia.
Andrey V
AV
Susekov
Division of Clinical Pharmacology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong SAR, The People's Republic of China.
Brian
B
Tomlinson
Academic Medical Centre, University of Amsterdam, The Netherlands.
Albert
A
Wiegman
Osaka University Graduate School of Medicine, Osaka University, Japan.
Shizuya
S
Yamashita
Academic Medical Centre, University of Amsterdam, The Netherlands.
John J P
JJ
Kastelein
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000924:Anticholesteremic Agents / Q000009:adverse effects / Q000592:standards / Q000627:therapeutic use*; D015415:Biomarkers / Q000097:blood; D001781:Blood Component Removal / Q000009:adverse effects / Q000592:standards*; D002648:Child; D008078:Cholesterol, LDL / Q000097:blood*; D032921:Consensus; D003299:Cooperative Behavior; D005817:Genetic Counseling / Q000592:standards; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000592:standards; D040941:Heredity; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D007391:International Cooperation; D010375:Pedigree; D010641:Phenotype; D010818:Practice Patterns, Physicians' / Q000592:standards*; D011237:Predictive Value of Tests
D000924:Anticholesteremic Agents; D015415:Biomarkers; D008078:Cholesterol, LDL
Familial hypercholesterolaemia; adults; assessment; children; diagnosis; international guidance; models of care; screening; treatment