Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.
Identifieur interne : 002C39 ( Main/Exploration ); précédent : 002C38; suivant : 002C40Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.
Auteurs : Gerald F. Watts [Australie] ; Samuel Gidding [États-Unis] ; Anthony S. Wierzbicki [Royaume-Uni] ; Peter P. Toth [États-Unis] ; Rodrigo Alonso [Espagne] ; W Virgil Brown [États-Unis] ; Eric Bruckert [France] ; Joep Defesche [Pays-Bas] ; Khoo Kah Lin [Malaisie] ; Michael Livingston [Royaume-Uni] ; Pedro Mata [Espagne] ; Klaus G. Parhofer [Allemagne] ; Frederick J. Raal [Afrique du Sud] ; Raul D. Santos [Brésil] ; Eric J G. Sijbrands [Pays-Bas] ; William G. Simpson [Royaume-Uni] ; David R. Sullivan [Australie] ; Andrey V. Susekov [Russie] ; Brian Tomlinson [Hong Kong] ; Albert Wiegman [Pays-Bas] ; Shizuya Yamashita [Japon] ; John J P. Kastelein [Pays-Bas]Source :
- European journal of preventive cardiology [ 2047-4881 ] ; 2015.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Anticholestérolémiants (effets indésirables), Anticholestérolémiants (normes), Anticholestérolémiants (usage thérapeutique), Aphérèse (effets indésirables), Aphérèse (normes), Cholestérol LDL (sang), Comportement coopératif, Conseil génétique (normes), Consensus, Coopération internationale, Dépistage génétique (normes), Enfant, Facteurs de l'âge, Humains, Hyperlipoprotéinémie de type II (), Hyperlipoprotéinémie de type II (diagnostic), Hyperlipoprotéinémie de type II (génétique), Hyperlipoprotéinémie de type II (sang), Hérédité, Marqueurs biologiques (sang), Pedigree, Phénotype, Prédisposition génétique à une maladie, Types de pratiques des médecins (normes), Valeur prédictive des tests.
- MESH :
- diagnostic : Hyperlipoprotéinémie de type II.
- effets indésirables : Anticholestérolémiants, Aphérèse.
- génétique : Hyperlipoprotéinémie de type II.
- normes : Anticholestérolémiants, Aphérèse, Conseil génétique, Dépistage génétique, Types de pratiques des médecins.
- sang : Cholestérol LDL, Hyperlipoprotéinémie de type II, Marqueurs biologiques.
- usage thérapeutique : Anticholestérolémiants.
- Adolescent, Adulte, Comportement coopératif, Consensus, Coopération internationale, Enfant, Facteurs de l'âge, Humains, Hyperlipoprotéinémie de type II, Hérédité, Pedigree, Phénotype, Prédisposition génétique à une maladie, Valeur prédictive des tests.
English descriptors
- KwdEn :
- Adolescent, Adult, Age Factors, Anticholesteremic Agents (adverse effects), Anticholesteremic Agents (standards), Anticholesteremic Agents (therapeutic use), Biomarkers (blood), Blood Component Removal (adverse effects), Blood Component Removal (standards), Child, Cholesterol, LDL (blood), Consensus, Cooperative Behavior, Genetic Counseling (standards), Genetic Predisposition to Disease, Genetic Testing (standards), Heredity, Humans, Hyperlipoproteinemia Type II (blood), Hyperlipoproteinemia Type II (diagnosis), Hyperlipoproteinemia Type II (genetics), Hyperlipoproteinemia Type II (therapy), International Cooperation, Pedigree, Phenotype, Practice Patterns, Physicians' (standards), Predictive Value of Tests.
- MESH :
- chemical , adverse effects : Anticholesteremic Agents.
- chemical , blood : Biomarkers, Cholesterol, LDL.
- chemical , standards : Anticholesteremic Agents.
- chemical , therapeutic use : Anticholesteremic Agents.
- adverse effects : Blood Component Removal.
- blood : Hyperlipoproteinemia Type II.
- diagnosis : Hyperlipoproteinemia Type II.
- genetics : Hyperlipoproteinemia Type II.
- standards : Blood Component Removal, Genetic Counseling, Genetic Testing, Practice Patterns, Physicians'.
- therapy : Hyperlipoproteinemia Type II.
- Adolescent, Adult, Age Factors, Child, Consensus, Cooperative Behavior, Genetic Predisposition to Disease, Heredity, Humans, International Cooperation, Pedigree, Phenotype, Predictive Value of Tests.
Abstract
Familial hypercholesterolaemia (FH) is a dominantly inherited disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL) cholesterol and causes premature coronary heart disease. There are at least 20 million people with FH worldwide, but the majority remains undetected and current treatment is often suboptimal.To address this major gap in coronary prevention we present, from an international perspective, consensus-based guidance on the care of FH. The guidance was generated from seminars and workshops held at an international symposium. The recommendations focus on the detection, diagnosis, assessment and management of FH in adults and children, and set guidelines for clinical purposes. They also refer to best practice for cascade screening and risk notifying and testing families for FH, including use of genetic testing. Guidance on treatment is based on risk stratification, management of non-cholesterol risk factors and safe and effective use of LDL lowering therapies. Recommendations are given on lipoprotein apheresis. The use of emerging therapies for FH is also foreshadowed.This international guidance acknowledges evidence gaps, but aims to make the best use of contemporary practice and technology to achieve the best outcomes for the care of FH. It should accordingly be employed to inform clinical judgment and be adjusted for country-specific and local healthcare needs and resources.
DOI: 10.1177/2047487314533218
PubMed: 24776375
Affiliations:
- Afrique du Sud, Allemagne, Australie, Brésil, Espagne, France, Hong Kong, Japon, Malaisie, Pays-Bas, Royaume-Uni, Russie, États-Unis
- Angleterre, Bavière, Communauté de Madrid, District de Haute-Bavière, District fédéral central, Gauteng, Grand Londres, Hollande-Méridionale, Hollande-Septentrionale, Nouvelle-Galles du Sud, Pennsylvanie, État de São Paulo
- Amsterdam, Johannesbourg, Londres, Madrid, Moscou, Munich, Philadelphie, Rotterdam, Sha Tin, Sydney, São Paulo
- Université Louis-et-Maximilien de Munich, Université chinoise de Hong Kong, Université d'Amsterdam, Université de Sydney, Université de São Paulo, Université du Witwatersrand
Links toward previous steps (curation, corpus...)
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Le document en format XML
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Watts</name><affiliation wicri:level="1"><nlm:affiliation>Cardiometabolic Service, Royal Perth Hospital, School of Medicine and Pharmacology, University of Western Australia gerald.watts@uwa.edu.au.</nlm:affiliation><country wicri:rule="url">Australie</country><wicri:regionArea>Cardiometabolic Service, Royal Perth Hospital, School of Medicine and Pharmacology</wicri:regionArea><wicri:noRegion>School of Medicine and Pharmacology</wicri:noRegion></affiliation></author><author><name sortKey="Gidding, Samuel" sort="Gidding, Samuel" uniqKey="Gidding S" first="Samuel" last="Gidding">Samuel Gidding</name><affiliation wicri:level="3"><nlm:affiliation>Cardiology Division, Nemours Cardiac Nemours Cardiac Center, AI duPont Hospital for Children, Wilmington, and Jefferson Medical College, Philadelphia, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Cardiology Division, Nemours Cardiac Nemours Cardiac Center, AI duPont Hospital for Children, Wilmington, and Jefferson Medical College, Philadelphia</wicri:regionArea><placeName><settlement type="city">Philadelphie</settlement><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Wierzbicki, Anthony S" sort="Wierzbicki, Anthony S" uniqKey="Wierzbicki A" first="Anthony S" last="Wierzbicki">Anthony S. 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Parhofer</name><affiliation wicri:level="4"><nlm:affiliation>Division of Metabolism and Endocrinology, Ludwig-Maximilians-University of Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Division of Metabolism and Endocrinology, Ludwig-Maximilians-University of Munich</wicri:regionArea><placeName><settlement type="city">Munich</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region></placeName><orgName type="university">Université Louis-et-Maximilien de Munich</orgName></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="4"><nlm:affiliation>Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.</nlm:affiliation><country xml:lang="fr">Afrique du Sud</country><wicri:regionArea>Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg</wicri:regionArea><orgName type="university">Université du Witwatersrand</orgName><placeName><settlement type="city">Johannesbourg</settlement><region type="region" nuts="2">Gauteng</region></placeName></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="4"><nlm:affiliation>Lipid Clinic Heart Institute (InCor), University of Sao Paulo Medical School, University of Sao Paulo, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Lipid Clinic Heart Institute (InCor), University of Sao Paulo Medical School, University of Sao Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName><orgName type="university">Université de São Paulo</orgName></affiliation></author><author><name sortKey="Sijbrands, Eric J G" sort="Sijbrands, Eric J G" uniqKey="Sijbrands E" first="Eric J G" last="Sijbrands">Eric J G. Sijbrands</name><affiliation wicri:level="3"><nlm:affiliation>Section of Pharmacology, Vascular and Metabolic Diseases, Erasmus Medical Centre, Erasmus University, Rotterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Section of Pharmacology, Vascular and Metabolic Diseases, Erasmus Medical Centre, Erasmus University, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Simpson, William G" sort="Simpson, William G" uniqKey="Simpson W" first="William G" last="Simpson">William G. Simpson</name><affiliation wicri:level="1"><nlm:affiliation>Aberdeen Royal Infirmary, University of Aberdeen, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Aberdeen Royal Infirmary, University of Aberdeen</wicri:regionArea><wicri:noRegion>University of Aberdeen</wicri:noRegion></affiliation></author><author><name sortKey="Sullivan, David R" sort="Sullivan, David R" uniqKey="Sullivan D" first="David R" last="Sullivan">David R. Sullivan</name><affiliation wicri:level="4"><nlm:affiliation>Lipid Clinic, Royal Prince Alfred Hospital, University of Sydney, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Lipid Clinic, Royal Prince Alfred Hospital, University of Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName><orgName type="university">Université de Sydney</orgName></affiliation></author><author><name sortKey="Susekov, Andrey V" sort="Susekov, Andrey V" uniqKey="Susekov A" first="Andrey V" last="Susekov">Andrey V. Susekov</name><affiliation wicri:level="3"><nlm:affiliation>Laboratory of Clinical Lipidology, Ministry of Health of Russian Federation, Moscow, Russia.</nlm:affiliation><country xml:lang="fr">Russie</country><wicri:regionArea>Laboratory of Clinical Lipidology, Ministry of Health of Russian Federation, Moscow</wicri:regionArea><placeName><settlement type="city">Moscou</settlement><region>District fédéral central</region></placeName></affiliation></author><author><name sortKey="Tomlinson, Brian" sort="Tomlinson, Brian" uniqKey="Tomlinson B" first="Brian" last="Tomlinson">Brian Tomlinson</name><affiliation wicri:level="4"><nlm:affiliation>Division of Clinical Pharmacology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong SAR, The People's Republic of China.</nlm:affiliation><orgName type="university">Université chinoise de Hong Kong</orgName><country>Hong Kong</country><placeName><settlement type="city">Sha Tin</settlement></placeName></affiliation></author><author><name sortKey="Wiegman, Albert" sort="Wiegman, Albert" uniqKey="Wiegman A" first="Albert" last="Wiegman">Albert Wiegman</name><affiliation wicri:level="4"><nlm:affiliation>Academic Medical Centre, University of Amsterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Academic Medical Centre, University of Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region>Hollande-Septentrionale</region></placeName><orgName type="university">Université d'Amsterdam</orgName></affiliation></author><author><name sortKey="Yamashita, Shizuya" sort="Yamashita, Shizuya" uniqKey="Yamashita S" first="Shizuya" last="Yamashita">Shizuya Yamashita</name><affiliation wicri:level="1"><nlm:affiliation>Osaka University Graduate School of Medicine, Osaka University, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Osaka University Graduate School of Medicine, Osaka University</wicri:regionArea><wicri:noRegion>Osaka University</wicri:noRegion></affiliation></author><author><name sortKey="Kastelein, John J P" sort="Kastelein, John J P" uniqKey="Kastelein J" first="John J P" last="Kastelein">John J P. Kastelein</name><affiliation wicri:level="4"><nlm:affiliation>Academic Medical Centre, University of Amsterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Academic Medical Centre, University of Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region>Hollande-Septentrionale</region></placeName><orgName type="university">Université d'Amsterdam</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:24776375</idno><idno type="pmid">24776375</idno><idno type="doi">10.1177/2047487314533218</idno><idno type="wicri:Area/PubMed/Corpus">002B82</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002B82</idno><idno type="wicri:Area/PubMed/Curation">002B10</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002B10</idno><idno type="wicri:Area/PubMed/Checkpoint">002B10</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">002B10</idno><idno type="wicri:Area/Ncbi/Merge">001995</idno><idno type="wicri:Area/Ncbi/Curation">001995</idno><idno type="wicri:Area/Ncbi/Checkpoint">001995</idno><idno type="wicri:Area/Main/Merge">002C39</idno><idno type="wicri:Area/Main/Curation">002C39</idno><idno type="wicri:Area/Main/Exploration">002C39</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.</title><author><name sortKey="Watts, Gerald F" sort="Watts, Gerald F" uniqKey="Watts G" first="Gerald F" last="Watts">Gerald F. Watts</name><affiliation wicri:level="1"><nlm:affiliation>Cardiometabolic Service, Royal Perth Hospital, School of Medicine and Pharmacology, University of Western Australia gerald.watts@uwa.edu.au.</nlm:affiliation><country wicri:rule="url">Australie</country><wicri:regionArea>Cardiometabolic Service, Royal Perth Hospital, School of Medicine and Pharmacology</wicri:regionArea><wicri:noRegion>School of Medicine and Pharmacology</wicri:noRegion></affiliation></author><author><name sortKey="Gidding, Samuel" sort="Gidding, Samuel" uniqKey="Gidding S" first="Samuel" last="Gidding">Samuel Gidding</name><affiliation wicri:level="3"><nlm:affiliation>Cardiology Division, Nemours Cardiac Nemours Cardiac Center, AI duPont Hospital for Children, Wilmington, and Jefferson Medical College, Philadelphia, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Cardiology Division, Nemours Cardiac Nemours Cardiac Center, AI duPont Hospital for Children, Wilmington, and Jefferson Medical College, Philadelphia</wicri:regionArea><placeName><settlement type="city">Philadelphie</settlement><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Wierzbicki, Anthony S" sort="Wierzbicki, Anthony S" uniqKey="Wierzbicki A" first="Anthony S" last="Wierzbicki">Anthony S. Wierzbicki</name><affiliation wicri:level="3"><nlm:affiliation>Guy's and St Thomas' Hospitals, NHS Foundation Trust, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Guy's and St Thomas' Hospitals, NHS Foundation Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Toth, Peter P" sort="Toth, Peter P" uniqKey="Toth P" first="Peter P" last="Toth">Peter P. Toth</name><affiliation wicri:level="1"><nlm:affiliation>CGH Medical Centre, Sterling, University of Illinois College of Medicine, Peoria, and Illinois Michigan State University College of Osteopathic Medicine, East Lansing, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>CGH Medical Centre, Sterling, University of Illinois College of Medicine, Peoria, and Illinois Michigan State University College of Osteopathic Medicine, East Lansing</wicri:regionArea><wicri:noRegion>East Lansing</wicri:noRegion></affiliation></author><author><name sortKey="Alonso, Rodrigo" sort="Alonso, Rodrigo" uniqKey="Alonso R" first="Rodrigo" last="Alonso">Rodrigo Alonso</name><affiliation wicri:level="3"><nlm:affiliation>Lipid Clinic, Fundacion Jimenez Diaz, Madrid, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Lipid Clinic, Fundacion Jimenez Diaz, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Brown, W Virgil" sort="Brown, W Virgil" uniqKey="Brown W" first="W Virgil" last="Brown">W Virgil Brown</name><affiliation wicri:level="1"><nlm:affiliation>Emory University School of Medicine, Emory University, Atlanta, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Emory University School of Medicine, Emory University, Atlanta</wicri:regionArea><wicri:noRegion>Atlanta</wicri:noRegion></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>Hôpital Pitié-Salpêtrière, University of Paris VI, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Hôpital Pitié-Salpêtrière, University of Paris VI</wicri:regionArea><wicri:noRegion>University of Paris VI</wicri:noRegion><wicri:noRegion>University of Paris VI</wicri:noRegion></affiliation></author><author><name sortKey="Defesche, Joep" sort="Defesche, Joep" uniqKey="Defesche J" first="Joep" last="Defesche">Joep Defesche</name><affiliation wicri:level="4"><nlm:affiliation>Laboratory for Experimental Vascular Medicine, Section of Molecular Diagnostics, Academic Medical Centre, University of Amsterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Laboratory for Experimental Vascular Medicine, Section of Molecular Diagnostics, Academic Medical Centre, University of Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region>Hollande-Septentrionale</region></placeName><orgName type="university">Université d'Amsterdam</orgName></affiliation></author><author><name sortKey="Lin, Khoo Kah" sort="Lin, Khoo Kah" uniqKey="Lin K" first="Khoo Kah" last="Lin">Khoo Kah Lin</name><affiliation wicri:level="1"><nlm:affiliation>Pontai Medical Centre, Heart Foundation of Malaysia, Kuala Lumpur, Malaysia.</nlm:affiliation><country xml:lang="fr">Malaisie</country><wicri:regionArea>Pontai Medical Centre, Heart Foundation of Malaysia, Kuala Lumpur</wicri:regionArea><wicri:noRegion>Kuala Lumpur</wicri:noRegion></affiliation></author><author><name sortKey="Livingston, Michael" sort="Livingston, Michael" uniqKey="Livingston M" first="Michael" last="Livingston">Michael Livingston</name><affiliation wicri:level="1"><nlm:affiliation>The International FH Foundation, St Andrews Court, Thame, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>The International FH Foundation, St Andrews Court, Thame</wicri:regionArea><wicri:noRegion>Thame</wicri:noRegion></affiliation></author><author><name sortKey="Mata, Pedro" sort="Mata, Pedro" uniqKey="Mata P" first="Pedro" last="Mata">Pedro Mata</name><affiliation wicri:level="3"><nlm:affiliation>Fundacion Hipercolesterolemia Familiar, Madrid, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundacion Hipercolesterolemia Familiar, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></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="4"><nlm:affiliation>Division of Metabolism and Endocrinology, Ludwig-Maximilians-University of Munich, Germany.</nlm:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Division of Metabolism and Endocrinology, Ludwig-Maximilians-University of Munich</wicri:regionArea><placeName><settlement type="city">Munich</settlement><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region></placeName><orgName type="university">Université Louis-et-Maximilien de Munich</orgName></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="4"><nlm:affiliation>Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.</nlm:affiliation><country xml:lang="fr">Afrique du Sud</country><wicri:regionArea>Carbohydrate and Lipid Metabolism Research Unit, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg</wicri:regionArea><orgName type="university">Université du Witwatersrand</orgName><placeName><settlement type="city">Johannesbourg</settlement><region type="region" nuts="2">Gauteng</region></placeName></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="4"><nlm:affiliation>Lipid Clinic Heart Institute (InCor), University of Sao Paulo Medical School, University of Sao Paulo, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Lipid Clinic Heart Institute (InCor), University of Sao Paulo Medical School, University of Sao Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName><orgName type="university">Université de São Paulo</orgName></affiliation></author><author><name sortKey="Sijbrands, Eric J G" sort="Sijbrands, Eric J G" uniqKey="Sijbrands E" first="Eric J G" last="Sijbrands">Eric J G. Sijbrands</name><affiliation wicri:level="3"><nlm:affiliation>Section of Pharmacology, Vascular and Metabolic Diseases, Erasmus Medical Centre, Erasmus University, Rotterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Section of Pharmacology, Vascular and Metabolic Diseases, Erasmus Medical Centre, Erasmus University, Rotterdam</wicri:regionArea><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Simpson, William G" sort="Simpson, William G" uniqKey="Simpson W" first="William G" last="Simpson">William G. Simpson</name><affiliation wicri:level="1"><nlm:affiliation>Aberdeen Royal Infirmary, University of Aberdeen, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Aberdeen Royal Infirmary, University of Aberdeen</wicri:regionArea><wicri:noRegion>University of Aberdeen</wicri:noRegion></affiliation></author><author><name sortKey="Sullivan, David R" sort="Sullivan, David R" uniqKey="Sullivan D" first="David R" last="Sullivan">David R. Sullivan</name><affiliation wicri:level="4"><nlm:affiliation>Lipid Clinic, Royal Prince Alfred Hospital, University of Sydney, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Lipid Clinic, Royal Prince Alfred Hospital, University of Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName><orgName type="university">Université de Sydney</orgName></affiliation></author><author><name sortKey="Susekov, Andrey V" sort="Susekov, Andrey V" uniqKey="Susekov A" first="Andrey V" last="Susekov">Andrey V. Susekov</name><affiliation wicri:level="3"><nlm:affiliation>Laboratory of Clinical Lipidology, Ministry of Health of Russian Federation, Moscow, Russia.</nlm:affiliation><country xml:lang="fr">Russie</country><wicri:regionArea>Laboratory of Clinical Lipidology, Ministry of Health of Russian Federation, Moscow</wicri:regionArea><placeName><settlement type="city">Moscou</settlement><region>District fédéral central</region></placeName></affiliation></author><author><name sortKey="Tomlinson, Brian" sort="Tomlinson, Brian" uniqKey="Tomlinson B" first="Brian" last="Tomlinson">Brian Tomlinson</name><affiliation wicri:level="4"><nlm:affiliation>Division of Clinical Pharmacology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong SAR, The People's Republic of China.</nlm:affiliation><orgName type="university">Université chinoise de Hong Kong</orgName><country>Hong Kong</country><placeName><settlement type="city">Sha Tin</settlement></placeName></affiliation></author><author><name sortKey="Wiegman, Albert" sort="Wiegman, Albert" uniqKey="Wiegman A" first="Albert" last="Wiegman">Albert Wiegman</name><affiliation wicri:level="4"><nlm:affiliation>Academic Medical Centre, University of Amsterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Academic Medical Centre, University of Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region>Hollande-Septentrionale</region></placeName><orgName type="university">Université d'Amsterdam</orgName></affiliation></author><author><name sortKey="Yamashita, Shizuya" sort="Yamashita, Shizuya" uniqKey="Yamashita S" first="Shizuya" last="Yamashita">Shizuya Yamashita</name><affiliation wicri:level="1"><nlm:affiliation>Osaka University Graduate School of Medicine, Osaka University, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Osaka University Graduate School of Medicine, Osaka University</wicri:regionArea><wicri:noRegion>Osaka University</wicri:noRegion></affiliation></author><author><name sortKey="Kastelein, John J P" sort="Kastelein, John J P" uniqKey="Kastelein J" first="John J P" last="Kastelein">John J P. Kastelein</name><affiliation wicri:level="4"><nlm:affiliation>Academic Medical Centre, University of Amsterdam, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Academic Medical Centre, University of Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region>Hollande-Septentrionale</region></placeName><orgName type="university">Université d'Amsterdam</orgName></affiliation></author></analytic><series><title level="j">European journal of preventive cardiology</title><idno type="eISSN">2047-4881</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>Age Factors</term><term>Anticholesteremic Agents (adverse effects)</term><term>Anticholesteremic Agents (standards)</term><term>Anticholesteremic Agents (therapeutic use)</term><term>Biomarkers (blood)</term><term>Blood Component Removal (adverse effects)</term><term>Blood Component Removal (standards)</term><term>Child</term><term>Cholesterol, LDL (blood)</term><term>Consensus</term><term>Cooperative Behavior</term><term>Genetic Counseling (standards)</term><term>Genetic Predisposition to Disease</term><term>Genetic Testing (standards)</term><term>Heredity</term><term>Humans</term><term>Hyperlipoproteinemia Type II (blood)</term><term>Hyperlipoproteinemia Type II (diagnosis)</term><term>Hyperlipoproteinemia Type II (genetics)</term><term>Hyperlipoproteinemia Type II (therapy)</term><term>International Cooperation</term><term>Pedigree</term><term>Phenotype</term><term>Practice Patterns, Physicians' (standards)</term><term>Predictive Value of Tests</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Anticholestérolémiants (effets indésirables)</term><term>Anticholestérolémiants (normes)</term><term>Anticholestérolémiants (usage thérapeutique)</term><term>Aphérèse (effets indésirables)</term><term>Aphérèse (normes)</term><term>Cholestérol LDL (sang)</term><term>Comportement coopératif</term><term>Conseil génétique (normes)</term><term>Consensus</term><term>Coopération internationale</term><term>Dépistage génétique (normes)</term><term>Enfant</term><term>Facteurs de l'âge</term><term>Humains</term><term>Hyperlipoprotéinémie de type II ()</term><term>Hyperlipoprotéinémie de type II (diagnostic)</term><term>Hyperlipoprotéinémie de type II (génétique)</term><term>Hyperlipoprotéinémie de type II (sang)</term><term>Hérédité</term><term>Marqueurs biologiques (sang)</term><term>Pedigree</term><term>Phénotype</term><term>Prédisposition génétique à une maladie</term><term>Types de pratiques des médecins (normes)</term><term>Valeur prédictive des tests</term></keywords><keywords scheme="MESH" type="chemical" qualifier="adverse effects" xml:lang="en"><term>Anticholesteremic Agents</term></keywords><keywords scheme="MESH" type="chemical" qualifier="blood" xml:lang="en"><term>Biomarkers</term><term>Cholesterol, LDL</term></keywords><keywords scheme="MESH" type="chemical" qualifier="standards" xml:lang="en"><term>Anticholesteremic Agents</term></keywords><keywords scheme="MESH" type="chemical" qualifier="therapeutic use" xml:lang="en"><term>Anticholesteremic Agents</term></keywords><keywords scheme="MESH" qualifier="adverse effects" xml:lang="en"><term>Blood Component Removal</term></keywords><keywords scheme="MESH" qualifier="blood" xml:lang="en"><term>Hyperlipoproteinemia Type II</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Hyperlipoproteinemia Type II</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Hyperlipoprotéinémie de type II</term></keywords><keywords scheme="MESH" qualifier="effets indésirables" xml:lang="fr"><term>Anticholestérolémiants</term><term>Aphérèse</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Hyperlipoproteinemia Type II</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Hyperlipoprotéinémie de type II</term></keywords><keywords scheme="MESH" qualifier="normes" xml:lang="fr"><term>Anticholestérolémiants</term><term>Aphérèse</term><term>Conseil génétique</term><term>Dépistage génétique</term><term>Types de pratiques des médecins</term></keywords><keywords scheme="MESH" qualifier="sang" xml:lang="fr"><term>Cholestérol LDL</term><term>Hyperlipoprotéinémie de type II</term><term>Marqueurs biologiques</term></keywords><keywords scheme="MESH" qualifier="standards" xml:lang="en"><term>Blood Component Removal</term><term>Genetic Counseling</term><term>Genetic Testing</term><term>Practice Patterns, Physicians'</term></keywords><keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Hyperlipoproteinemia Type II</term></keywords><keywords scheme="MESH" qualifier="usage thérapeutique" xml:lang="fr"><term>Anticholestérolémiants</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age Factors</term><term>Child</term><term>Consensus</term><term>Cooperative Behavior</term><term>Genetic Predisposition to Disease</term><term>Heredity</term><term>Humans</term><term>International Cooperation</term><term>Pedigree</term><term>Phenotype</term><term>Predictive Value of Tests</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Comportement coopératif</term><term>Consensus</term><term>Coopération internationale</term><term>Enfant</term><term>Facteurs de l'âge</term><term>Humains</term><term>Hyperlipoprotéinémie de type II</term><term>Hérédité</term><term>Pedigree</term><term>Phénotype</term><term>Prédisposition génétique à une maladie</term><term>Valeur prédictive des tests</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Familial hypercholesterolaemia (FH) is a dominantly inherited disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL) cholesterol and causes premature coronary heart disease. There are at least 20 million people with FH worldwide, but the majority remains undetected and current treatment is often suboptimal.To address this major gap in coronary prevention we present, from an international perspective, consensus-based guidance on the care of FH. The guidance was generated from seminars and workshops held at an international symposium. The recommendations focus on the detection, diagnosis, assessment and management of FH in adults and children, and set guidelines for clinical purposes. They also refer to best practice for cascade screening and risk notifying and testing families for FH, including use of genetic testing. Guidance on treatment is based on risk stratification, management of non-cholesterol risk factors and safe and effective use of LDL lowering therapies. Recommendations are given on lipoprotein apheresis. The use of emerging therapies for FH is also foreshadowed.This international guidance acknowledges evidence gaps, but aims to make the best use of contemporary practice and technology to achieve the best outcomes for the care of FH. It should accordingly be employed to inform clinical judgment and be adjusted for country-specific and local healthcare needs and resources.</div></front></TEI><affiliations><list><country><li>Afrique du Sud</li><li>Allemagne</li><li>Australie</li><li>Brésil</li><li>Espagne</li><li>France</li><li>Hong Kong</li><li>Japon</li><li>Malaisie</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>Russie</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Bavière</li><li>Communauté de Madrid</li><li>District de Haute-Bavière</li><li>District fédéral central</li><li>Gauteng</li><li>Grand Londres</li><li>Hollande-Méridionale</li><li>Hollande-Septentrionale</li><li>Nouvelle-Galles du Sud</li><li>Pennsylvanie</li><li>État de São Paulo</li></region><settlement><li>Amsterdam</li><li>Johannesbourg</li><li>Londres</li><li>Madrid</li><li>Moscou</li><li>Munich</li><li>Philadelphie</li><li>Rotterdam</li><li>Sha Tin</li><li>Sydney</li><li>São Paulo</li></settlement><orgName><li>Université Louis-et-Maximilien de Munich</li><li>Université chinoise de Hong Kong</li><li>Université d'Amsterdam</li><li>Université de Sydney</li><li>Université de São Paulo</li><li>Université du Witwatersrand</li></orgName></list><tree><country name="Australie"><noRegion><name sortKey="Watts, Gerald F" sort="Watts, Gerald F" uniqKey="Watts G" first="Gerald F" last="Watts">Gerald F. Watts</name></noRegion><name sortKey="Sullivan, David R" sort="Sullivan, David R" uniqKey="Sullivan D" first="David R" last="Sullivan">David R. Sullivan</name></country><country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Gidding, Samuel" sort="Gidding, Samuel" uniqKey="Gidding S" first="Samuel" last="Gidding">Samuel Gidding</name></region><name sortKey="Brown, W Virgil" sort="Brown, W Virgil" uniqKey="Brown W" first="W Virgil" last="Brown">W Virgil Brown</name><name sortKey="Toth, Peter P" sort="Toth, Peter P" uniqKey="Toth P" first="Peter P" last="Toth">Peter P. Toth</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Wierzbicki, Anthony S" sort="Wierzbicki, Anthony S" uniqKey="Wierzbicki A" first="Anthony S" last="Wierzbicki">Anthony S. Wierzbicki</name></region><name sortKey="Livingston, Michael" sort="Livingston, Michael" uniqKey="Livingston M" first="Michael" last="Livingston">Michael Livingston</name><name sortKey="Simpson, William G" sort="Simpson, William G" uniqKey="Simpson W" first="William G" last="Simpson">William G. Simpson</name></country><country name="Espagne"><region name="Communauté de Madrid"><name sortKey="Alonso, Rodrigo" sort="Alonso, Rodrigo" uniqKey="Alonso R" first="Rodrigo" last="Alonso">Rodrigo Alonso</name></region><name sortKey="Mata, Pedro" sort="Mata, Pedro" uniqKey="Mata P" first="Pedro" last="Mata">Pedro Mata</name></country><country name="France"><noRegion><name sortKey="Bruckert, Eric" sort="Bruckert, Eric" uniqKey="Bruckert E" first="Eric" last="Bruckert">Eric Bruckert</name></noRegion></country><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Defesche, Joep" sort="Defesche, Joep" uniqKey="Defesche J" first="Joep" last="Defesche">Joep Defesche</name></region><name sortKey="Kastelein, John J P" sort="Kastelein, John J P" uniqKey="Kastelein J" first="John J P" last="Kastelein">John J P. Kastelein</name><name sortKey="Sijbrands, Eric J G" sort="Sijbrands, Eric J G" uniqKey="Sijbrands E" first="Eric J G" last="Sijbrands">Eric J G. Sijbrands</name><name sortKey="Wiegman, Albert" sort="Wiegman, Albert" uniqKey="Wiegman A" first="Albert" last="Wiegman">Albert Wiegman</name></country><country name="Malaisie"><noRegion><name sortKey="Lin, Khoo Kah" sort="Lin, Khoo Kah" uniqKey="Lin K" first="Khoo Kah" last="Lin">Khoo Kah Lin</name></noRegion></country><country name="Allemagne"><region name="Bavière"><name sortKey="Parhofer, Klaus G" sort="Parhofer, Klaus G" uniqKey="Parhofer K" first="Klaus G" last="Parhofer">Klaus G. Parhofer</name></region></country><country name="Afrique du Sud"><region name="Gauteng"><name sortKey="Raal, Frederick J" sort="Raal, Frederick J" uniqKey="Raal F" first="Frederick J" last="Raal">Frederick J. Raal</name></region></country><country name="Brésil"><region name="État de São Paulo"><name sortKey="Santos, Raul D" sort="Santos, Raul D" uniqKey="Santos R" first="Raul D" last="Santos">Raul D. Santos</name></region></country><country name="Russie"><region name="District fédéral central"><name sortKey="Susekov, Andrey V" sort="Susekov, Andrey V" uniqKey="Susekov A" first="Andrey V" last="Susekov">Andrey V. Susekov</name></region></country><country name="Hong Kong"><noRegion><name sortKey="Tomlinson, Brian" sort="Tomlinson, Brian" uniqKey="Tomlinson B" first="Brian" last="Tomlinson">Brian Tomlinson</name></noRegion></country><country name="Japon"><noRegion><name sortKey="Yamashita, Shizuya" sort="Yamashita, Shizuya" uniqKey="Yamashita S" first="Shizuya" last="Yamashita">Shizuya Yamashita</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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