Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.
Identifieur interne : 002974 ( PubMed/Corpus ); précédent : 002973; suivant : 002975Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.
Auteurs : Albert Wiegman ; Samuel S. Gidding ; Gerald F. Watts ; M John Chapman ; Henry N. Ginsberg ; Marina Cuchel ; Leiv Ose ; Maurizio Averna ; Catherine Boileau ; Jan Borén ; Eric Bruckert ; Alberico L. Catapano ; Joep C. Defesche ; Olivier S. Descamps ; Robert A. Hegele ; G Kees Hovingh ; Steve E. Humphries ; Petri T. Kovanen ; Jan Albert Kuivenhoven ; Luis Masana ; B Rge G. Nordestgaard ; P Ivi Pajukanta ; Klaus G. Parhofer ; Frederick J. Raal ; Kausik K. Ray ; Raul D. Santos ; Anton F H. Stalenhoef ; Elisabeth Steinhagen-Thiessen ; Erik S. Stroes ; Marja-Riitta Taskinen ; Anne Tybj Rg-Hansen ; Olov WiklundSource :
- European heart journal [ 1522-9645 ] ; 2015.
English descriptors
- KwdEn :
- Adolescent, Adult, Atherosclerosis (diagnosis), Atherosclerosis (drug therapy), Carotid Intima-Media Thickness, Child, Clinical Laboratory Techniques (methods), Cost of Illness, Counseling, Diet, Dietary Supplements, Early Diagnosis, Economics, Medical, Evidence-Based Medicine, Female, Genetic Testing, Heterozygote, Homozygote, Humans, Hyperlipoproteinemia Type II (diagnosis), Hyperlipoproteinemia Type II (drug therapy), Hyperlipoproteinemia Type II (genetics), Life Expectancy, Medication Adherence, Middle Aged, Pregnancy, Pregnancy Complications (etiology), Risk Factors, Young Adult.
- MESH :
- diagnosis : Atherosclerosis, Hyperlipoproteinemia Type II.
- drug therapy : Atherosclerosis, Hyperlipoproteinemia Type II.
- etiology : Pregnancy Complications.
- genetics : Hyperlipoproteinemia Type II.
- methods : Clinical Laboratory Techniques.
- Adolescent, Adult, Carotid Intima-Media Thickness, Child, Cost of Illness, Counseling, Diet, Dietary Supplements, Early Diagnosis, Economics, Medical, Evidence-Based Medicine, Female, Genetic Testing, Heterozygote, Homozygote, Humans, Life Expectancy, Medication Adherence, Middle Aged, Pregnancy, Risk Factors, Young Adult.
Abstract
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.
DOI: 10.1093/eurheartj/ehv157
PubMed: 26009596
Links to Exploration step
pubmed:26009596Le document en format XML
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Watts</name><affiliation><nlm:affiliation>School of Medicine and Pharmacology, Royal Perth Hospital Unit, The University of Western Australia, Western Australia, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Chapman, M John" sort="Chapman, M John" uniqKey="Chapman M" first="M John" last="Chapman">M John Chapman</name><affiliation><nlm:affiliation>Pierre and Marie Curie University, Paris, France National Institute for Health and Medical Research (INSERM), Pitié-Salpêtrière University Hospital, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Ginsberg, Henry N" sort="Ginsberg, Henry N" uniqKey="Ginsberg H" first="Henry N" last="Ginsberg">Henry N. Ginsberg</name><affiliation><nlm:affiliation>Columbia University College of Physicians and Surgeons, New York, NY, USA Irving Institute for Clinical and Translational Research, Columbia University Medical Center, New York, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Cuchel, Marina" sort="Cuchel, Marina" uniqKey="Cuchel M" first="Marina" last="Cuchel">Marina Cuchel</name><affiliation><nlm:affiliation>Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Ose, Leiv" sort="Ose, Leiv" uniqKey="Ose L" first="Leiv" last="Ose">Leiv Ose</name><affiliation><nlm:affiliation>Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway Lipid Clinic, Oslo University Hospital, Oslo, Norway.</nlm:affiliation></affiliation></author><author><name sortKey="Averna, Maurizio" sort="Averna, Maurizio" uniqKey="Averna M" first="Maurizio" last="Averna">Maurizio Averna</name><affiliation><nlm:affiliation>Department of Internal Medicine, University of Palermo, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Boileau, Catherine" sort="Boileau, Catherine" uniqKey="Boileau C" first="Catherine" last="Boileau">Catherine Boileau</name><affiliation><nlm:affiliation>Diderot Medical School, University Paris 7, Paris, France Genetics Department, Bichat University Hospital, Paris, France INSERM U698, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Boren, Jan" sort="Boren, Jan" uniqKey="Boren J" first="Jan" last="Borén">Jan Borén</name><affiliation><nlm:affiliation>Department of Medicine, Sahlgrenska Academy, Göteborg University, Gothenburg, Sweden Wallenberg Laboratory for Cardiovascular Research, Gothenburg, Sweden.</nlm:affiliation></affiliation></author><author><name sortKey="Bruckert, Eric" sort="Bruckert, Eric" uniqKey="Bruckert E" first="Eric" last="Bruckert">Eric Bruckert</name><affiliation><nlm:affiliation>Department of Endocrinology and Prevention of Cardiovascular Disease, University Hospital Pitié-Salpêtrière, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Catapano, Alberico L" sort="Catapano, Alberico L" uniqKey="Catapano A" first="Alberico L" last="Catapano">Alberico L. Catapano</name><affiliation><nlm:affiliation>Department of Pharmacology, Faculty of Pharmacy, University of Milano, Milan, Italy Multimedica IRCSS, Milan, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Defesche, Joep C" sort="Defesche, Joep C" uniqKey="Defesche J" first="Joep C" last="Defesche">Joep C. Defesche</name><affiliation><nlm:affiliation>Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Descamps, Olivier S" sort="Descamps, Olivier S" uniqKey="Descamps O" first="Olivier S" last="Descamps">Olivier S. Descamps</name><affiliation><nlm:affiliation>Centre Hospitalier Jolimont-Lobbes, Nivelles-Tubize, Belgium.</nlm:affiliation></affiliation></author><author><name sortKey="Hegele, Robert A" sort="Hegele, Robert A" uniqKey="Hegele R" first="Robert A" last="Hegele">Robert A. Hegele</name><affiliation><nlm:affiliation>Robarts Research Institute, University of Western Ontario, London, ON, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Hovingh, G Kees" sort="Hovingh, G Kees" uniqKey="Hovingh G" first="G Kees" last="Hovingh">G Kees Hovingh</name><affiliation><nlm:affiliation>Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Humphries, Steve E" sort="Humphries, Steve E" uniqKey="Humphries S" first="Steve E" last="Humphries">Steve E. Humphries</name><affiliation><nlm:affiliation>Centre for Cardiovascular Genetics, University College London, Institute of Cardiovascular Sciences, London, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Kovanen, Petri T" sort="Kovanen, Petri T" uniqKey="Kovanen P" first="Petri T" last="Kovanen">Petri T. Kovanen</name><affiliation><nlm:affiliation>Wihuri Research Institute, Helsinki, Finland.</nlm:affiliation></affiliation></author><author><name sortKey="Kuivenhoven, Jan Albert" sort="Kuivenhoven, Jan Albert" uniqKey="Kuivenhoven J" first="Jan Albert" last="Kuivenhoven">Jan Albert Kuivenhoven</name><affiliation><nlm:affiliation>Department of Pediatrics, Section Molecular Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Masana, Luis" sort="Masana, Luis" uniqKey="Masana L" first="Luis" last="Masana">Luis Masana</name><affiliation><nlm:affiliation>Vascular Medicine and Metabolic Unit, Department of Medicine and Surgery, University Rovira and Virgili, Reus-Tarragona, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Nordestgaard, B Rge G" sort="Nordestgaard, B Rge G" uniqKey="Nordestgaard B" first="B Rge G" last="Nordestgaard">B Rge G. Nordestgaard</name><affiliation><nlm:affiliation>Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.</nlm:affiliation></affiliation></author><author><name sortKey="Pajukanta, P Ivi" sort="Pajukanta, P Ivi" uniqKey="Pajukanta P" first="P Ivi" last="Pajukanta">P Ivi Pajukanta</name><affiliation><nlm:affiliation>Department of Human Genetics, Center for Metabolic Disease Prevention, University of California, Los Angeles, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Parhofer, Klaus G" sort="Parhofer, Klaus G" uniqKey="Parhofer K" first="Klaus G" last="Parhofer">Klaus G. Parhofer</name><affiliation><nlm:affiliation>Department of Endocrinology and Metabolism, University of Munich, Munich, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Raal, Frederick J" sort="Raal, Frederick J" uniqKey="Raal F" first="Frederick J" last="Raal">Frederick J. Raal</name><affiliation><nlm:affiliation>Carbohydrate & Lipid Metabolism Research Unit; and Division of Endocrinology & Metabolism, University of the Witwatersrand, Johannesburg, South Africa.</nlm:affiliation></affiliation></author><author><name sortKey="Ray, Kausik K" sort="Ray, Kausik K" uniqKey="Ray K" first="Kausik K" last="Ray">Kausik K. Ray</name><affiliation><nlm:affiliation>Department of Primary Care and Public Health, School of Public Health, Imperial College, London, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Santos, Raul D" sort="Santos, Raul D" uniqKey="Santos R" first="Raul D" last="Santos">Raul D. Santos</name><affiliation><nlm:affiliation>Lipid Clinic of the Heart Institute (InCor), University of São Paulo, São Paulo, Brazil Department of Cardiology, University of São Paulo Medical School, São Paulo, Brazil.</nlm:affiliation></affiliation></author><author><name sortKey="Stalenhoef, Anton F H" sort="Stalenhoef, Anton F H" uniqKey="Stalenhoef A" first="Anton F H" last="Stalenhoef">Anton F H. Stalenhoef</name><affiliation><nlm:affiliation>Department of Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Steinhagen Thiessen, Elisabeth" sort="Steinhagen Thiessen, Elisabeth" uniqKey="Steinhagen Thiessen E" first="Elisabeth" last="Steinhagen-Thiessen">Elisabeth Steinhagen-Thiessen</name><affiliation><nlm:affiliation>Evangelisches Geriatriezentrum Berlin gGmbH (EGZB), Berlin, Germany Charité - Universitätsmedizin, Berlin, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Stroes, Erik S" sort="Stroes, Erik S" uniqKey="Stroes E" first="Erik S" last="Stroes">Erik S. Stroes</name><affiliation><nlm:affiliation>Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Taskinen, Marja Riitta" sort="Taskinen, Marja Riitta" uniqKey="Taskinen M" first="Marja-Riitta" last="Taskinen">Marja-Riitta Taskinen</name><affiliation><nlm:affiliation>Research Programs Unit, Diabetes & Obesity, University of Helsinki and Heart & Lung Centre, Helsinki University Hospital, Helsinki, Finland.</nlm:affiliation></affiliation></author><author><name sortKey="Tybj Rg Hansen, Anne" sort="Tybj Rg Hansen, Anne" uniqKey="Tybj Rg Hansen A" first="Anne" last="Tybj Rg-Hansen">Anne Tybj Rg-Hansen</name><affiliation><nlm:affiliation>Department of Clinical Biochemistry, Section for Molecular Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.</nlm:affiliation></affiliation></author><author><name sortKey="Wiklund, Olov" sort="Wiklund, Olov" uniqKey="Wiklund O" first="Olov" last="Wiklund">Olov Wiklund</name><affiliation><nlm:affiliation>Department of Experimental and Clinical Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden Department of Cardiology, Sahlgrenska University Hospital, Gothenburg, Sweden.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:26009596</idno><idno type="pmid">26009596</idno><idno type="doi">10.1093/eurheartj/ehv157</idno><idno type="wicri:Area/PubMed/Corpus">002974</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002974</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.</title><author><name sortKey="Wiegman, Albert" sort="Wiegman, Albert" uniqKey="Wiegman A" first="Albert" last="Wiegman">Albert Wiegman</name><affiliation><nlm:affiliation>Department of Paediatrics, Academic Medical Center, University of Amsterdam, The Netherlands a.wiegman@amc.uva.nl.</nlm:affiliation></affiliation></author><author><name sortKey="Gidding, Samuel S" sort="Gidding, Samuel S" uniqKey="Gidding S" first="Samuel S" last="Gidding">Samuel S. Gidding</name><affiliation><nlm:affiliation>Nemours Cardiac Center, A. I. DuPont Hospital for Children, Wilmington, DE, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Watts, Gerald F" sort="Watts, Gerald F" uniqKey="Watts G" first="Gerald F" last="Watts">Gerald F. Watts</name><affiliation><nlm:affiliation>School of Medicine and Pharmacology, Royal Perth Hospital Unit, The University of Western Australia, Western Australia, Australia.</nlm:affiliation></affiliation></author><author><name sortKey="Chapman, M John" sort="Chapman, M John" uniqKey="Chapman M" first="M John" last="Chapman">M John Chapman</name><affiliation><nlm:affiliation>Pierre and Marie Curie University, Paris, France National Institute for Health and Medical Research (INSERM), Pitié-Salpêtrière University Hospital, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Ginsberg, Henry N" sort="Ginsberg, Henry N" uniqKey="Ginsberg H" first="Henry N" last="Ginsberg">Henry N. Ginsberg</name><affiliation><nlm:affiliation>Columbia University College of Physicians and Surgeons, New York, NY, USA Irving Institute for Clinical and Translational Research, Columbia University Medical Center, New York, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Cuchel, Marina" sort="Cuchel, Marina" uniqKey="Cuchel M" first="Marina" last="Cuchel">Marina Cuchel</name><affiliation><nlm:affiliation>Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Ose, Leiv" sort="Ose, Leiv" uniqKey="Ose L" first="Leiv" last="Ose">Leiv Ose</name><affiliation><nlm:affiliation>Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway Lipid Clinic, Oslo University Hospital, Oslo, Norway.</nlm:affiliation></affiliation></author><author><name sortKey="Averna, Maurizio" sort="Averna, Maurizio" uniqKey="Averna M" first="Maurizio" last="Averna">Maurizio Averna</name><affiliation><nlm:affiliation>Department of Internal Medicine, University of Palermo, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Boileau, Catherine" sort="Boileau, Catherine" uniqKey="Boileau C" first="Catherine" last="Boileau">Catherine Boileau</name><affiliation><nlm:affiliation>Diderot Medical School, University Paris 7, Paris, France Genetics Department, Bichat University Hospital, Paris, France INSERM U698, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Boren, Jan" sort="Boren, Jan" uniqKey="Boren J" first="Jan" last="Borén">Jan Borén</name><affiliation><nlm:affiliation>Department of Medicine, Sahlgrenska Academy, Göteborg University, Gothenburg, Sweden Wallenberg Laboratory for Cardiovascular Research, Gothenburg, Sweden.</nlm:affiliation></affiliation></author><author><name sortKey="Bruckert, Eric" sort="Bruckert, Eric" uniqKey="Bruckert E" first="Eric" last="Bruckert">Eric Bruckert</name><affiliation><nlm:affiliation>Department of Endocrinology and Prevention of Cardiovascular Disease, University Hospital Pitié-Salpêtrière, Paris, France.</nlm:affiliation></affiliation></author><author><name sortKey="Catapano, Alberico L" sort="Catapano, Alberico L" uniqKey="Catapano A" first="Alberico L" last="Catapano">Alberico L. Catapano</name><affiliation><nlm:affiliation>Department of Pharmacology, Faculty of Pharmacy, University of Milano, Milan, Italy Multimedica IRCSS, Milan, Italy.</nlm:affiliation></affiliation></author><author><name sortKey="Defesche, Joep C" sort="Defesche, Joep C" uniqKey="Defesche J" first="Joep C" last="Defesche">Joep C. Defesche</name><affiliation><nlm:affiliation>Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Descamps, Olivier S" sort="Descamps, Olivier S" uniqKey="Descamps O" first="Olivier S" last="Descamps">Olivier S. Descamps</name><affiliation><nlm:affiliation>Centre Hospitalier Jolimont-Lobbes, Nivelles-Tubize, Belgium.</nlm:affiliation></affiliation></author><author><name sortKey="Hegele, Robert A" sort="Hegele, Robert A" uniqKey="Hegele R" first="Robert A" last="Hegele">Robert A. Hegele</name><affiliation><nlm:affiliation>Robarts Research Institute, University of Western Ontario, London, ON, Canada.</nlm:affiliation></affiliation></author><author><name sortKey="Hovingh, G Kees" sort="Hovingh, G Kees" uniqKey="Hovingh G" first="G Kees" last="Hovingh">G Kees Hovingh</name><affiliation><nlm:affiliation>Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Humphries, Steve E" sort="Humphries, Steve E" uniqKey="Humphries S" first="Steve E" last="Humphries">Steve E. Humphries</name><affiliation><nlm:affiliation>Centre for Cardiovascular Genetics, University College London, Institute of Cardiovascular Sciences, London, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Kovanen, Petri T" sort="Kovanen, Petri T" uniqKey="Kovanen P" first="Petri T" last="Kovanen">Petri T. Kovanen</name><affiliation><nlm:affiliation>Wihuri Research Institute, Helsinki, Finland.</nlm:affiliation></affiliation></author><author><name sortKey="Kuivenhoven, Jan Albert" sort="Kuivenhoven, Jan Albert" uniqKey="Kuivenhoven J" first="Jan Albert" last="Kuivenhoven">Jan Albert Kuivenhoven</name><affiliation><nlm:affiliation>Department of Pediatrics, Section Molecular Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Masana, Luis" sort="Masana, Luis" uniqKey="Masana L" first="Luis" last="Masana">Luis Masana</name><affiliation><nlm:affiliation>Vascular Medicine and Metabolic Unit, Department of Medicine and Surgery, University Rovira and Virgili, Reus-Tarragona, Spain.</nlm:affiliation></affiliation></author><author><name sortKey="Nordestgaard, B Rge G" sort="Nordestgaard, B Rge G" uniqKey="Nordestgaard B" first="B Rge G" last="Nordestgaard">B Rge G. Nordestgaard</name><affiliation><nlm:affiliation>Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.</nlm:affiliation></affiliation></author><author><name sortKey="Pajukanta, P Ivi" sort="Pajukanta, P Ivi" uniqKey="Pajukanta P" first="P Ivi" last="Pajukanta">P Ivi Pajukanta</name><affiliation><nlm:affiliation>Department of Human Genetics, Center for Metabolic Disease Prevention, University of California, Los Angeles, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Parhofer, Klaus G" sort="Parhofer, Klaus G" uniqKey="Parhofer K" first="Klaus G" last="Parhofer">Klaus G. Parhofer</name><affiliation><nlm:affiliation>Department of Endocrinology and Metabolism, University of Munich, Munich, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Raal, Frederick J" sort="Raal, Frederick J" uniqKey="Raal F" first="Frederick J" last="Raal">Frederick J. Raal</name><affiliation><nlm:affiliation>Carbohydrate & Lipid Metabolism Research Unit; and Division of Endocrinology & Metabolism, University of the Witwatersrand, Johannesburg, South Africa.</nlm:affiliation></affiliation></author><author><name sortKey="Ray, Kausik K" sort="Ray, Kausik K" uniqKey="Ray K" first="Kausik K" last="Ray">Kausik K. Ray</name><affiliation><nlm:affiliation>Department of Primary Care and Public Health, School of Public Health, Imperial College, London, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Santos, Raul D" sort="Santos, Raul D" uniqKey="Santos R" first="Raul D" last="Santos">Raul D. Santos</name><affiliation><nlm:affiliation>Lipid Clinic of the Heart Institute (InCor), University of São Paulo, São Paulo, Brazil Department of Cardiology, University of São Paulo Medical School, São Paulo, Brazil.</nlm:affiliation></affiliation></author><author><name sortKey="Stalenhoef, Anton F H" sort="Stalenhoef, Anton F H" uniqKey="Stalenhoef A" first="Anton F H" last="Stalenhoef">Anton F H. Stalenhoef</name><affiliation><nlm:affiliation>Department of Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Steinhagen Thiessen, Elisabeth" sort="Steinhagen Thiessen, Elisabeth" uniqKey="Steinhagen Thiessen E" first="Elisabeth" last="Steinhagen-Thiessen">Elisabeth Steinhagen-Thiessen</name><affiliation><nlm:affiliation>Evangelisches Geriatriezentrum Berlin gGmbH (EGZB), Berlin, Germany Charité - Universitätsmedizin, Berlin, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Stroes, Erik S" sort="Stroes, Erik S" uniqKey="Stroes E" first="Erik S" last="Stroes">Erik S. Stroes</name><affiliation><nlm:affiliation>Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands.</nlm:affiliation></affiliation></author><author><name sortKey="Taskinen, Marja Riitta" sort="Taskinen, Marja Riitta" uniqKey="Taskinen M" first="Marja-Riitta" last="Taskinen">Marja-Riitta Taskinen</name><affiliation><nlm:affiliation>Research Programs Unit, Diabetes & Obesity, University of Helsinki and Heart & Lung Centre, Helsinki University Hospital, Helsinki, Finland.</nlm:affiliation></affiliation></author><author><name sortKey="Tybj Rg Hansen, Anne" sort="Tybj Rg Hansen, Anne" uniqKey="Tybj Rg Hansen A" first="Anne" last="Tybj Rg-Hansen">Anne Tybj Rg-Hansen</name><affiliation><nlm:affiliation>Department of Clinical Biochemistry, Section for Molecular Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.</nlm:affiliation></affiliation></author><author><name sortKey="Wiklund, Olov" sort="Wiklund, Olov" uniqKey="Wiklund O" first="Olov" last="Wiklund">Olov Wiklund</name><affiliation><nlm:affiliation>Department of Experimental and Clinical Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden Department of Cardiology, Sahlgrenska University Hospital, Gothenburg, Sweden.</nlm:affiliation></affiliation></author></analytic><series><title level="j">European heart journal</title><idno type="eISSN">1522-9645</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Atherosclerosis (diagnosis)</term><term>Atherosclerosis (drug therapy)</term><term>Carotid Intima-Media Thickness</term><term>Child</term><term>Clinical Laboratory Techniques (methods)</term><term>Cost of Illness</term><term>Counseling</term><term>Diet</term><term>Dietary Supplements</term><term>Early Diagnosis</term><term>Economics, Medical</term><term>Evidence-Based Medicine</term><term>Female</term><term>Genetic Testing</term><term>Heterozygote</term><term>Homozygote</term><term>Humans</term><term>Hyperlipoproteinemia Type II (diagnosis)</term><term>Hyperlipoproteinemia Type II (drug therapy)</term><term>Hyperlipoproteinemia Type II (genetics)</term><term>Life Expectancy</term><term>Medication Adherence</term><term>Middle Aged</term><term>Pregnancy</term><term>Pregnancy Complications (etiology)</term><term>Risk Factors</term><term>Young Adult</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Atherosclerosis</term><term>Hyperlipoproteinemia Type II</term></keywords><keywords scheme="MESH" qualifier="drug therapy" xml:lang="en"><term>Atherosclerosis</term><term>Hyperlipoproteinemia Type II</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Pregnancy Complications</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Hyperlipoproteinemia Type II</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Clinical Laboratory Techniques</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Carotid Intima-Media Thickness</term><term>Child</term><term>Cost of Illness</term><term>Counseling</term><term>Diet</term><term>Dietary Supplements</term><term>Early Diagnosis</term><term>Economics, Medical</term><term>Evidence-Based Medicine</term><term>Female</term><term>Genetic Testing</term><term>Heterozygote</term><term>Homozygote</term><term>Humans</term><term>Life Expectancy</term><term>Medication Adherence</term><term>Middle Aged</term><term>Pregnancy</term><term>Risk Factors</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26009596</PMID><DateCreated><Year>2015</Year><Month>09</Month><Day>22</Day></DateCreated><DateCompleted><Year>2016</Year><Month>06</Month><Day>27</Day></DateCompleted><DateRevised><Year>2017</Year><Month>09</Month><Day>22</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1522-9645</ISSN><JournalIssue CitedMedium="Internet"><Volume>36</Volume><Issue>36</Issue><PubDate><Year>2015</Year><Month>Sep</Month><Day>21</Day></PubDate></JournalIssue><Title>European heart journal</Title><ISOAbbreviation>Eur. Heart J.</ISOAbbreviation></Journal><ArticleTitle>Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.</ArticleTitle><Pagination><MedlinePgn>2425-37</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1093/eurheartj/ehv157</ELocationID><Abstract><AbstractText>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.</AbstractText><CopyrightInformation>© The Author 2015. Published by Oxford University Press on behalf of the European Society of Cardiology.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Wiegman</LastName><ForeName>Albert</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Paediatrics, Academic Medical Center, University of Amsterdam, The Netherlands a.wiegman@amc.uva.nl.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gidding</LastName><ForeName>Samuel S</ForeName><Initials>SS</Initials><AffiliationInfo><Affiliation>Nemours Cardiac Center, A. I. DuPont Hospital for Children, Wilmington, DE, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Watts</LastName><ForeName>Gerald F</ForeName><Initials>GF</Initials><AffiliationInfo><Affiliation>School of Medicine and Pharmacology, Royal Perth Hospital Unit, The University of Western Australia, Western Australia, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Chapman</LastName><ForeName>M John</ForeName><Initials>MJ</Initials><AffiliationInfo><Affiliation>Pierre and Marie Curie University, Paris, France National Institute for Health and Medical Research (INSERM), Pitié-Salpêtrière University Hospital, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ginsberg</LastName><ForeName>Henry N</ForeName><Initials>HN</Initials><AffiliationInfo><Affiliation>Columbia University College of Physicians and Surgeons, New York, NY, USA Irving Institute for Clinical and Translational Research, Columbia University Medical Center, New York, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cuchel</LastName><ForeName>Marina</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ose</LastName><ForeName>Leiv</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway Lipid Clinic, Oslo University Hospital, Oslo, Norway.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Averna</LastName><ForeName>Maurizio</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Internal Medicine, University of Palermo, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Boileau</LastName><ForeName>Catherine</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Diderot Medical School, University Paris 7, Paris, France Genetics Department, Bichat University Hospital, Paris, France INSERM U698, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Borén</LastName><ForeName>Jan</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Medicine, Sahlgrenska Academy, Göteborg University, Gothenburg, Sweden Wallenberg Laboratory for Cardiovascular Research, Gothenburg, Sweden.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bruckert</LastName><ForeName>Eric</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Department of Endocrinology and Prevention of Cardiovascular Disease, University Hospital Pitié-Salpêtrière, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Catapano</LastName><ForeName>Alberico L</ForeName><Initials>AL</Initials><AffiliationInfo><Affiliation>Department of Pharmacology, Faculty of Pharmacy, University of Milano, Milan, Italy Multimedica IRCSS, Milan, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Defesche</LastName><ForeName>Joep C</ForeName><Initials>JC</Initials><AffiliationInfo><Affiliation>Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Descamps</LastName><ForeName>Olivier S</ForeName><Initials>OS</Initials><AffiliationInfo><Affiliation>Centre Hospitalier Jolimont-Lobbes, Nivelles-Tubize, Belgium.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hegele</LastName><ForeName>Robert A</ForeName><Initials>RA</Initials><AffiliationInfo><Affiliation>Robarts Research Institute, University of Western Ontario, London, ON, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hovingh</LastName><ForeName>G Kees</ForeName><Initials>GK</Initials><AffiliationInfo><Affiliation>Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Humphries</LastName><ForeName>Steve E</ForeName><Initials>SE</Initials><AffiliationInfo><Affiliation>Centre for Cardiovascular Genetics, University College London, Institute of Cardiovascular Sciences, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kovanen</LastName><ForeName>Petri T</ForeName><Initials>PT</Initials><AffiliationInfo><Affiliation>Wihuri Research Institute, Helsinki, Finland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kuivenhoven</LastName><ForeName>Jan Albert</ForeName><Initials>JA</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Section Molecular Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Masana</LastName><ForeName>Luis</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Vascular Medicine and Metabolic Unit, Department of Medicine and Surgery, University Rovira and Virgili, Reus-Tarragona, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nordestgaard</LastName><ForeName>Børge G</ForeName><Initials>BG</Initials><AffiliationInfo><Affiliation>Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pajukanta</LastName><ForeName>Päivi</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Human Genetics, Center for Metabolic Disease Prevention, University of California, Los Angeles, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Parhofer</LastName><ForeName>Klaus G</ForeName><Initials>KG</Initials><AffiliationInfo><Affiliation>Department of Endocrinology and Metabolism, University of Munich, Munich, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Raal</LastName><ForeName>Frederick J</ForeName><Initials>FJ</Initials><AffiliationInfo><Affiliation>Carbohydrate & Lipid Metabolism Research Unit; and Division of Endocrinology & Metabolism, University of the Witwatersrand, Johannesburg, South Africa.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ray</LastName><ForeName>Kausik K</ForeName><Initials>KK</Initials><AffiliationInfo><Affiliation>Department of Primary Care and Public Health, School of Public Health, Imperial College, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Santos</LastName><ForeName>Raul D</ForeName><Initials>RD</Initials><AffiliationInfo><Affiliation>Lipid Clinic of the Heart Institute (InCor), University of São Paulo, São Paulo, Brazil Department of Cardiology, University of São Paulo Medical School, São Paulo, Brazil.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Stalenhoef</LastName><ForeName>Anton F H</ForeName><Initials>AF</Initials><AffiliationInfo><Affiliation>Department of Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Steinhagen-Thiessen</LastName><ForeName>Elisabeth</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Evangelisches Geriatriezentrum Berlin gGmbH (EGZB), Berlin, Germany Charité - Universitätsmedizin, Berlin, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Stroes</LastName><ForeName>Erik S</ForeName><Initials>ES</Initials><AffiliationInfo><Affiliation>Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Taskinen</LastName><ForeName>Marja-Riitta</ForeName><Initials>MR</Initials><AffiliationInfo><Affiliation>Research Programs Unit, Diabetes & Obesity, University of Helsinki and Heart & Lung Centre, Helsinki University Hospital, Helsinki, Finland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tybjærg-Hansen</LastName><ForeName>Anne</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Clinical Biochemistry, Section for Molecular Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wiklund</LastName><ForeName>Olov</ForeName><Initials>O</Initials><AffiliationInfo><Affiliation>Department of Experimental and Clinical Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden Department of Cardiology, Sahlgrenska University Hospital, Gothenburg, Sweden.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><CollectiveName>European Atherosclerosis Society Consensus Panel</CollectiveName></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>P01 HL028481</GrantID><Acronym>HL</Acronym><Agency>NHLBI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01 HL095056</GrantID><Acronym>HL</Acronym><Agency>NHLBI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>RG/08/008/25291</GrantID><Agency>British Heart Foundation</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList><ArticleDate 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