Обзорная статья

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment

Albert WiegmanDepartment of Paediatrics, Academic Medical Center, University of Amsterdam, The Netherlands [email protected]Samuel S. GiddingNemours Cardiac Center, A. I. DuPont Hospital for Children, Wilmington, DE, USAGerald F. WattsSchool of Medicine and Pharmacology, Royal Perth Hospital Unit, The University of Western Australia, Western Australia, AustraliaM. John ChapmanPierre and Marie Curie University, Paris, France National Institute for Health and Medical Research (INSERM), Pitié-Salpêtrière University Hospital, Paris, FranceHenry N. GinsbergColumbia University College of Physicians and Surgeons, New York, NY, USA Irving Institute for Clinical and Translational Research, Columbia University Medical Center, New York, USAMarina CuchelPerelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USALeiv OseDepartment of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway Lipid Clinic, Oslo University Hospital, Oslo, NorwayMaurizio AvernaDepartment of Internal Medicine, University of Palermo, ItalyCathérine BoileauDiderot Medical School, University Paris 7, Paris, France Genetics Department, Bichat University Hospital, Paris, France INSERM U698, Paris, FranceJan BorénDepartment of Medicine, Sahlgrenska Academy, Göteborg University, Gothenburg, Sweden Wallenberg Laboratory for Cardiovascular Research, Gothenburg, SwedenÉric BruckertDepartment of Endocrinology and Prevention of Cardiovascular Disease, University Hospital Pitié-Salpêtrière, Paris, FranceAlberico L. CatapanoDepartment of Pharmacology, Faculty of Pharmacy, University of Milano, Milan, Italy Multimedica IRCSS, Milan, ItalyJoep C. DefescheDepartment of Vascular Medicine, Academic Medical Center, University of Amsterdam, The NetherlandsOlivier DescampsCentre Hospitalier Jolimont-Lobbes, Nivelles-Tubize, BelgiumRobert A. HegeleRobarts Research Institute, University of Western Ontario, London, ON, CanadaG. Kees HovinghDepartment of Vascular Medicine, Academic Medical Center, University of Amsterdam, The NetherlandsSteve E. HumphriesCentre for Cardiovascular Genetics, University College London, Institute of Cardiovascular Sciences, London, UKPetri T. KovanenWihuri Research Institute, Helsinki, FinlandJan Albert KuivenhovenDepartment of Pediatrics, Section Molecular Genetics, University Medical Center Groningen, University of Groningen, Groningen, The NetherlandsL. MasanaVascular Medicine and Metabolic Unit, Department of Medicine and Surgery, University Rovira and Virgili, Reus-Tarragona, SpainBørge G. NordestgaardDepartment of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, DenmarkPäivi PajukantaDepartment of Human Genetics, Center for Metabolic Disease Prevention, University of California, Los Angeles, USAKlaus G. ParhoferDepartment of Endocrinology and Metabolism, University of Munich, Munich, GermanyFrederick J. RaalCarbohydrate & Lipid Metabolism Research Unit; and Division of Endocrinology & Metabolism, University of the Witwatersrand, Johannesburg, South AfricaKausik K. RayDepartment of Primary Care and Public Health, School of Public Health, Imperial College, London, UKRaúl D. SantosLipid Clinic of the Heart Institute (InCor), University of São Paulo, São Paulo, Brazil Department of Cardiology, University of São Paulo Medical School, São Paulo, BrazilAnton F. H. StalenhoefDepartment of Medicine, Radboud University Medical Center, Nijmegen, The NetherlandsElisabeth Steinhagen- ThiessenEvangelisches Geriatriezentrum Berlin gGmbH (EGZB), Berlin, Germany Charité - Universitätsmedizin, Berlin, GermanyErik S.G. StroesDepartment of Vascular Medicine, Academic Medical Center, University of Amsterdam, The NetherlandsMarja‐Riitta TaskinenResearch Programs Unit, Diabetes & Obesity, University of Helsinki and Heart & Lung Centre, Helsinki University Hospital, Helsinki, FinlandAnne Tybjærg‐HansenDepartment of Clinical Biochemistry, Section for Molecular Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, DenmarkOlov WiklundDepartment of Experimental and Clinical Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden Department of Cardiology, Sahlgrenska University Hospital, Gothenburg, Sweden

2015en

ABI

Аннотация

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 phenotypic criteria, i.e. an elevated low-density lipoprotein cholesterol (LDL-C) level plus a family history of elevated LDL-C, premature coronary artery disease and/or genetic diagnosis, or positive genetic testing. Childhood is the optimal period for discrimination between FH and non-FH using LDL-C screening. An LDL-C ≥5 mmol/L (190 mg/dL), or an LDL-C ≥4 mmol/L (160 mg/dL) with family history of premature CHD and/or high baseline cholesterol in one parent, make the phenotypic diagnosis. If a parent has a genetic defect, the LDL-C cut-off for the child is ≥3.5 mmol/L (130 mg/dL). We recommend cascade screening of families using a combined phenotypic and genotypic strategy. In children, testing is recommended from age 5 years, or earlier if homozygous FH is suspected. A healthy lifestyle and statin treatment (from age 8 to 10 years) are the cornerstones of management of heterozygous FH. Target LDL-C is <3.5 mmol/L (130 mg/dL) if >10 years, or ideally 50% reduction from baseline if 8-10 years, especially with very high LDL-C, elevated lipoprotein(a), a family history of premature CHD or other cardiovascular risk factors, balanced against the long-term risk of treatment side effects. Identifying FH early and optimally lowering LDL-C over the lifespan reduces cumulative LDL-C burden and offers health and socioeconomic benefits. To drive policy change for timely detection and management, we call for further studies in the young. Increased awareness, early identification, and optimal treatment from childhood are critical to adding decades of healthy life for children and adolescents with FH.

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Идентификаторы

DOI: 10.1093/eurheartj/ehv157

Цитирования и источники

Цитирований: 4Использованных источников: 0

Показатели — AkademScholar