Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.
Identifieur interne : 002905 ( PubMed/Curation ); précédent : 002904; suivant : 002906Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.
Auteurs : Albert Wiegman [Pays-Bas] ; Samuel S. Gidding [États-Unis] ; Gerald F. Watts [Australie] ; M John Chapman [France] ; Henry N. Ginsberg [États-Unis] ; Marina Cuchel [États-Unis] ; Leiv Ose [Norvège] ; Maurizio Averna [Italie] ; Catherine Boileau [France] ; Jan Borén [Suède] ; Eric Bruckert [France] ; Alberico L. Catapano [Italie] ; Joep C. Defesche [Pays-Bas] ; Olivier S. Descamps [Belgique] ; Robert A. Hegele [Canada] ; G Kees Hovingh [Pays-Bas] ; Steve E. Humphries [Royaume-Uni] ; Petri T. Kovanen [Finlande] ; Jan Albert Kuivenhoven [Pays-Bas] ; Luis Masana [Espagne] ; B Rge G. Nordestgaard [Danemark] ; P Ivi Pajukanta [États-Unis] ; Klaus G. Parhofer [Allemagne] ; Frederick J. Raal [Afrique du Sud] ; Kausik K. Ray [Royaume-Uni] ; Raul D. Santos [Brésil] ; Anton F H. Stalenhoef [Pays-Bas] ; Elisabeth Steinhagen-Thiessen [Allemagne] ; Erik S. Stroes [Pays-Bas] ; Marja-Riitta Taskinen [Finlande] ; Anne Tybj Rg-Hansen [Danemark] ; Olov Wiklund [Suède]Source :
- European heart journal [ 1522-9645 ] ; 2015.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Adulte d'âge moyen, Assistance, Athérosclérose (diagnostic), Athérosclérose (traitement médicamenteux), Complications de la grossesse (étiologie), Compléments alimentaires, Coût de la maladie, Diagnostic précoce, Dépistage génétique, Enfant, Espérance de vie, Facteurs de risque, Femelle, Grossesse, Homozygote, Humains, Hyperlipoprotéinémie de type II (diagnostic), Hyperlipoprotéinémie de type II (génétique), Hyperlipoprotéinémie de type II (traitement médicamenteux), Hétérozygote, Jeune adulte, Médecine factuelle, Observance du traitement médicamenteux, Régime alimentaire, Techniques de laboratoire clinique (), Économie médicale, Épaisseur intima-média carotidienne.
- MESH :
- diagnostic : Athérosclérose, Hyperlipoprotéinémie de type II.
- génétique : Hyperlipoprotéinémie de type II.
- traitement médicamenteux : Athérosclérose, Hyperlipoprotéinémie de type II.
- étiologie : Complications de la grossesse.
- Adolescent, Adulte, Adulte d'âge moyen, Assistance, Compléments alimentaires, Coût de la maladie, Diagnostic précoce, Dépistage génétique, Enfant, Espérance de vie, Facteurs de risque, Femelle, Grossesse, Homozygote, Humains, Hétérozygote, Jeune adulte, Médecine factuelle, Observance du traitement médicamenteux, Régime alimentaire, Techniques de laboratoire clinique, Économie médicale, Épaisseur intima-média carotidienne.
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
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<wicri:regionArea>Department of Pediatrics, Section Molecular Genetics, University Medical Center Groningen, University of Groningen, Groningen</wicri:regionArea>
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<country xml:lang="fr">Danemark</country>
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<author><name sortKey="Pajukanta, P Ivi" sort="Pajukanta, P Ivi" uniqKey="Pajukanta P" first="P Ivi" last="Pajukanta">P Ivi Pajukanta</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Human Genetics, Center for Metabolic Disease Prevention, University of California, Los Angeles</wicri:regionArea>
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<author><name sortKey="Parhofer, Klaus G" sort="Parhofer, Klaus G" uniqKey="Parhofer K" first="Klaus G" last="Parhofer">Klaus G. Parhofer</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Endocrinology and Metabolism, University of Munich, Munich, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Endocrinology and Metabolism, University of Munich, Munich</wicri:regionArea>
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<author><name sortKey="Raal, Frederick J" sort="Raal, Frederick J" uniqKey="Raal F" first="Frederick J" last="Raal">Frederick J. Raal</name>
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<author><name sortKey="Ray, Kausik K" sort="Ray, Kausik K" uniqKey="Ray K" first="Kausik K" last="Ray">Kausik K. Ray</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Primary Care and Public Health, School of Public Health, Imperial College, London, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Primary Care and Public Health, School of Public Health, Imperial College, London</wicri:regionArea>
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<author><name sortKey="Santos, Raul D" sort="Santos, Raul D" uniqKey="Santos R" first="Raul D" last="Santos">Raul D. Santos</name>
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<country xml:lang="fr">Brésil</country>
<wicri:regionArea>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</wicri:regionArea>
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<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 wicri:level="1"><nlm:affiliation>Department of Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Medicine, Radboud University Medical Center, Nijmegen</wicri:regionArea>
</affiliation>
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<author><name sortKey="Steinhagen Thiessen, Elisabeth" sort="Steinhagen Thiessen, Elisabeth" uniqKey="Steinhagen Thiessen E" first="Elisabeth" last="Steinhagen-Thiessen">Elisabeth Steinhagen-Thiessen</name>
<affiliation wicri:level="1"><nlm:affiliation>Evangelisches Geriatriezentrum Berlin gGmbH (EGZB), Berlin, Germany Charité - Universitätsmedizin, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Evangelisches Geriatriezentrum Berlin gGmbH (EGZB), Berlin, Germany Charité - Universitätsmedizin, Berlin</wicri:regionArea>
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</author>
<author><name sortKey="Stroes, Erik S" sort="Stroes, Erik S" uniqKey="Stroes E" first="Erik S" last="Stroes">Erik S. Stroes</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Vascular Medicine, Academic Medical Center, University of Amsterdam</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Research Programs Unit, Diabetes & Obesity, University of Helsinki and Heart & Lung Centre, Helsinki University Hospital, Helsinki, Finland.</nlm:affiliation>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Research Programs Unit, Diabetes & Obesity, University of Helsinki and Heart & Lung Centre, Helsinki University Hospital, Helsinki</wicri:regionArea>
</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 wicri:level="1"><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>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Clinical Biochemistry, Section for Molecular Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wiklund, Olov" sort="Wiklund, Olov" uniqKey="Wiklund O" first="Olov" last="Wiklund">Olov Wiklund</name>
<affiliation wicri:level="1"><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>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Experimental and Clinical Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden Department of Cardiology, Sahlgrenska University Hospital, Gothenburg</wicri:regionArea>
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<author><name sortKey="Chapman, M John" sort="Chapman, M John" uniqKey="Chapman M" first="M John" last="Chapman">M John Chapman</name>
<affiliation wicri:level="1"><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>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pierre and Marie Curie University, Paris, France National Institute for Health and Medical Research (INSERM), Pitié-Salpêtrière University Hospital, Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ginsberg, Henry N" sort="Ginsberg, Henry N" uniqKey="Ginsberg H" first="Henry N" last="Ginsberg">Henry N. Ginsberg</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Columbia University College of Physicians and Surgeons, New York, NY, USA Irving Institute for Clinical and Translational Research, Columbia University Medical Center, New York</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Cuchel, Marina" sort="Cuchel, Marina" uniqKey="Cuchel M" first="Marina" last="Cuchel">Marina Cuchel</name>
<affiliation wicri:level="1"><nlm:affiliation>Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ose, Leiv" sort="Ose, Leiv" uniqKey="Ose L" first="Leiv" last="Ose">Leiv Ose</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway Lipid Clinic, Oslo University Hospital, Oslo, Norway.</nlm:affiliation>
<country xml:lang="fr">Norvège</country>
<wicri:regionArea>Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway Lipid Clinic, Oslo University Hospital, Oslo</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Averna, Maurizio" sort="Averna, Maurizio" uniqKey="Averna M" first="Maurizio" last="Averna">Maurizio Averna</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Internal Medicine, University of Palermo, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Internal Medicine, University of Palermo</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Boileau, Catherine" sort="Boileau, Catherine" uniqKey="Boileau C" first="Catherine" last="Boileau">Catherine Boileau</name>
<affiliation wicri:level="1"><nlm:affiliation>Diderot Medical School, University Paris 7, Paris, France Genetics Department, Bichat University Hospital, Paris, France INSERM U698, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Diderot Medical School, University Paris 7, Paris, France Genetics Department, Bichat University Hospital, Paris, France INSERM U698, Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Boren, Jan" sort="Boren, Jan" uniqKey="Boren J" first="Jan" last="Borén">Jan Borén</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Medicine, Sahlgrenska Academy, Göteborg University, Gothenburg, Sweden Wallenberg Laboratory for Cardiovascular Research, Gothenburg, Sweden.</nlm:affiliation>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Medicine, Sahlgrenska Academy, Göteborg University, Gothenburg, Sweden Wallenberg Laboratory for Cardiovascular Research, Gothenburg</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bruckert, Eric" sort="Bruckert, Eric" uniqKey="Bruckert E" first="Eric" last="Bruckert">Eric Bruckert</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Endocrinology and Prevention of Cardiovascular Disease, University Hospital Pitié-Salpêtrière, Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Endocrinology and Prevention of Cardiovascular Disease, University Hospital Pitié-Salpêtrière, Paris</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Department of Pharmacology, Faculty of Pharmacy, University of Milano, Milan, Italy Multimedica IRCSS, Milan, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Pharmacology, Faculty of Pharmacy, University of Milano, Milan, Italy Multimedica IRCSS, Milan</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Vascular Medicine, Academic Medical Center, University of Amsterdam</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Centre Hospitalier Jolimont-Lobbes, Nivelles-Tubize, Belgium.</nlm:affiliation>
<country xml:lang="fr">Belgique</country>
<wicri:regionArea>Centre Hospitalier Jolimont-Lobbes, Nivelles-Tubize</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Robarts Research Institute, University of Western Ontario, London, ON, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Robarts Research Institute, University of Western Ontario, London, ON</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Vascular Medicine, Academic Medical Center, University of Amsterdam</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Centre for Cardiovascular Genetics, University College London, Institute of Cardiovascular Sciences, London, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Centre for Cardiovascular Genetics, University College London, Institute of Cardiovascular Sciences, London</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Wihuri Research Institute, Helsinki, Finland.</nlm:affiliation>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Wihuri Research Institute, Helsinki</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Department of Pediatrics, Section Molecular Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Pediatrics, Section Molecular Genetics, University Medical Center Groningen, University of Groningen, Groningen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Masana, Luis" sort="Masana, Luis" uniqKey="Masana L" first="Luis" last="Masana">Luis Masana</name>
<affiliation wicri:level="1"><nlm:affiliation>Vascular Medicine and Metabolic Unit, Department of Medicine and Surgery, University Rovira and Virgili, Reus-Tarragona, Spain.</nlm:affiliation>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Vascular Medicine and Metabolic Unit, Department of Medicine and Surgery, University Rovira and Virgili, Reus-Tarragona</wicri:regionArea>
</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 wicri:level="1"><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>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Department of Human Genetics, Center for Metabolic Disease Prevention, University of California, Los Angeles, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Human Genetics, Center for Metabolic Disease Prevention, University of California, Los Angeles</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Department of Endocrinology and Metabolism, University of Munich, Munich, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Endocrinology and Metabolism, University of Munich, Munich</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Carbohydrate & Lipid Metabolism Research Unit; and Division of Endocrinology & Metabolism, University of the Witwatersrand, Johannesburg, South Africa.</nlm:affiliation>
<country xml:lang="fr">Afrique du Sud</country>
<wicri:regionArea>Carbohydrate & Lipid Metabolism Research Unit; and Division of Endocrinology & Metabolism, University of the Witwatersrand, Johannesburg</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Department of Primary Care and Public Health, School of Public Health, Imperial College, London, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Primary Care and Public Health, School of Public Health, Imperial College, London</wicri:regionArea>
</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 wicri:level="1"><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>
<country xml:lang="fr">Brésil</country>
<wicri:regionArea>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</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Department of Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Medicine, Radboud University Medical Center, Nijmegen</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Evangelisches Geriatriezentrum Berlin gGmbH (EGZB), Berlin, Germany Charité - Universitätsmedizin, Berlin, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Evangelisches Geriatriezentrum Berlin gGmbH (EGZB), Berlin, Germany Charité - Universitätsmedizin, Berlin</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Vascular Medicine, Academic Medical Center, University of Amsterdam</wicri:regionArea>
</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 wicri:level="1"><nlm:affiliation>Research Programs Unit, Diabetes & Obesity, University of Helsinki and Heart & Lung Centre, Helsinki University Hospital, Helsinki, Finland.</nlm:affiliation>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Research Programs Unit, Diabetes & Obesity, University of Helsinki and Heart & Lung Centre, Helsinki University Hospital, Helsinki</wicri:regionArea>
</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 wicri:level="1"><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>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Clinical Biochemistry, Section for Molecular Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wiklund, Olov" sort="Wiklund, Olov" uniqKey="Wiklund O" first="Olov" last="Wiklund">Olov Wiklund</name>
<affiliation wicri:level="1"><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>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Experimental and Clinical Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden Department of Cardiology, Sahlgrenska University Hospital, Gothenburg</wicri:regionArea>
</affiliation>
</author>
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<series><title level="j">European heart journal</title>
<idno type="eISSN">1522-9645</idno>
<imprint><date when="2015" type="published">2015</date>
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<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>
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<term>Genetic Testing</term>
<term>Heterozygote</term>
<term>Homozygote</term>
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<term>Hyperlipoproteinemia Type II (drug therapy)</term>
<term>Hyperlipoproteinemia Type II (genetics)</term>
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<term>Pregnancy Complications (etiology)</term>
<term>Risk Factors</term>
<term>Young Adult</term>
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<term>Adulte</term>
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<term>Assistance</term>
<term>Athérosclérose (diagnostic)</term>
<term>Athérosclérose (traitement médicamenteux)</term>
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<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>
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<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>
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<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 DateType="Electronic"><Year>2015</Year>
<Month>05</Month>
<Day>25</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>England</Country>
<MedlineTA>Eur Heart J</MedlineTA>
<NlmUniqueID>8006263</NlmUniqueID>
<ISSNLinking>0195-668X</ISSNLinking>
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