REVIEW Prevention Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment Albert Wiegman 1† * , Samuel S. Gidding 2† , Gerald F. Watts 3 , M. John Chapman 4,5 , Henry N. Ginsberg 6,7 , Marina Cuchel 8 , Leiv Ose 9,10 , Maurizio Averna 11 , Catherine Boileau 12,13,14 , Jan Bore ´n 15,16 , Eric Bruckert 17 , Alberico L. Catapano 18,19 , Joep C. Defesche 20 , Olivier S. Descamps 21 , Robert A. Hegele 22 , G. Kees Hovingh 20 , Steve E. Humphries 23 , Petri T. Kovanen 24 , Jan Albert Kuivenhoven 25 , Luis Masana 26 , Børge G. Nordestgaard 27,28 , Pa ¨ ivi Pajukanta 29 , Klaus G. Parhofer 30 , Frederick J. Raal 31 , Kausik K. Ray 32 , Raul D. Santos 33,34 , Anton F.H. Stalenhoef 35 , Elisabeth Steinhagen- Thiessen 36,37 , Erik S. Stroes 20 , Marja-Riitta Taskinen 38 , Anne Tybjærg-Hansen 39,40 , and Olov Wiklund 41,42 , for the European Atherosclerosis Society Consensus Panel ‡ 1 Department of Paediatrics, Academic Medical Center, University of Amsterdam, The Netherlands; 2 Nemours Cardiac Center, A. I. DuPont Hospital for Children, Wilmington, DE, USA; 3 School of Medicine and Pharmacology, Royal Perth Hospital Unit, The University of Western Australia, Western Australia, Australia; 4 Pierre and Marie Curie University, Paris, France; 5 National Institute for Health and Medical Research (INSERM), Pitie ´-Salpe ˆtrie `re University Hospital, Paris, France; 6 Columbia University College of Physicians and Surgeons, New York, NY, USA; 7 Irving Institute for Clinical and Translational Research, Columbia University Medical Center, New York, USA; 8 Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA; 9 Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway; 10 Lipid Clinic, Oslo University Hospital, Oslo, Norway; 11 Department of Internal Medicine, University of Palermo, Italy; 12 Diderot Medical School, University Paris 7, Paris, France; 13 Genetics Department, Bichat University Hospital, Paris, France; 14 INSERM U698, Paris, France; 15 Department of Medicine, Sahlgrenska Academy, Go ¨ teborg University, Gothenburg, Sweden; 16 Wallenberg Laboratory for Cardiovascular Research, Gothenburg, Sweden; 17 Department of Endocrinology and Prevention of Cardiovascular Disease, University Hospital Pitie ´-Salpe ˆtrie `re, Paris, France; 18 Department of Pharmacology, Faculty of Pharmacy, University of Milano, Milan, Italy; 19 Multimedica IRCSS, Milan, Italy; 20 Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands; 21 Centre Hospitalier Jolimont-Lobbes, Nivelles-Tubize, Belgium; 22 Robarts Research Institute, University of Western Ontario, London, ON, Canada; 23 Centre for Cardiovascular Genetics, University College London, Institute of Cardiovascular Sciences, London, UK; 24 Wihuri Research Institute, Helsinki, Finland; 25 Department of Pediatrics, Section Molecular Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands; 26 Vascular Medicine and Metabolic Unit, Department of Medicine and Surgery, University Rovira and Virgili, Reus-Tarragona, Spain; 27 Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark; 28 Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark; 29 Department of Human Genetics, Center for Metabolic Disease Prevention, University of California, Los Angeles, USA; 30 Department of Endocrinology and Metabolism, University of Munich, Munich, Germany; 31 Carbohydrate & Lipid Metabolism Research Unit; and Division of Endocrinology & Metabolism, University of the Witwatersrand, Johannesburg, South Africa; 32 Department of Primary Care and Public Health, School of Public Health, Imperial College, London, UK; 33 Lipid Clinic of the Heart Institute (InCor), University of Sa ˜o Paulo, Sa ˜o Paulo, Brazil; 34 Department of Cardiology, University of Sa ˜o Paulo Medical School, Sa ˜o Paulo, Brazil; 35 Department of Medicine, Radboud University Medical Center, Nijmegen, The Netherlands; 36 Evangelisches Geriatriezentrum Berlin gGmbH (EGZB), Berlin, Germany; 37 Charite ´ – Universita ¨tsmedizin, Berlin, Germany; 38 Research Programs Unit, Diabetes & Obesity, University of Helsinki and Heart & Lung Centre, Helsinki University Hospital, Helsinki, Finland; 39 Department of Clinical Biochemistry, Section for Molecular Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark; 40 Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark; 41 Department of Experimental and Clinical Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; and 42 Department of Cardiology, Sahlgrenska University Hospital, Gothenburg, Sweden Received 16 February 2015; revised 8 April 2015; accepted 19 April 2015 Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart disease (CHD). Globally, one baby is born with FH every minute. If diagnosed and treated early in childhood, individuals with FH can have normal life expectancy. This consensus paper aims to improve awareness of the need for early detection and management of FH children. Familial hypercholesterolaemia is diagnosed either on pheno- typic criteria, i.e. an elevated low-density lipoprotein cholesterol (LDL-C) level plus a family history of elevated LDL-C, premature coronary artery * Corresponding author. Tel: +31 205662851, Email: a.wiegman@amc.uva.nl † Equal first authors. ‡ For list of Panel members, see Appendix. & The Author 2015. Published by Oxford University Press on behalf of the European Society of Cardiology. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com European Heart Journal doi:10.1093/eurheartj/ehv157 European Heart Journal Advance Access published May 25, 2015 by guest on May 29, 2015 Downloaded from