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Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel.

Identifieur interne : 001760 ( PubMed/Corpus ); précédent : 001759; suivant : 001761

Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel.

Auteurs : Raul D. Santos ; Samuel S. Gidding ; Robert A. Hegele ; Marina A. Cuchel ; Philip J. Barter ; Gerald F. Watts ; Seth J. Baum ; Alberico L. Catapano ; M John Chapman ; Joep C. Defesche ; Emanuela Folco ; Tomas Freiberger ; Jacques Genest ; G Kees Hovingh ; Mariko Harada-Shiba ; Steve E. Humphries ; Ann S. Jackson ; Pedro Mata ; Patrick M. Moriarty ; Frederick J. Raal ; Khalid Al-Rasadi ; Kausik K. Ray ; Zelijko Reiner ; Eric J G. Sijbrands ; Shizuya Yamashita

Source :

RBID : pubmed:27246162

Abstract

Familial hypercholesterolaemia is common in individuals who had a myocardial infarction at a young age. As many as one in 200 people could have heterozygous familial hypercholesterolaemia, and up to one in 300 000 individuals could be homozygous. The phenotypes of heterozygous and homozygous familial hypercholesterolaemia overlap considerably; the response to treatment is also heterogeneous. In this Review, we aim to define a phenotype for severe familial hypercholesterolaemia and identify people at highest risk for cardiovascular disease, based on the concentration of LDL cholesterol in blood and individuals' responsiveness to conventional lipid-lowering treatment. We assess the importance of molecular characterisation and define the role of other cardiovascular risk factors and advanced subclinical coronary atherosclerosis in risk stratification. Individuals with severe familial hypercholesterolaemia might benefit in particular from early and more aggressive cholesterol-lowering treatment (eg, with PCSK9 inhibitors). In addition to better tailored therapy, more precise characterisation of individuals with severe familial hypercholesterolaemia could improve resource use.

DOI: 10.1016/S2213-8587(16)30041-9
PubMed: 27246162

Links to Exploration step

pubmed:27246162

Le document en format XML

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<name sortKey="Freiberger, Tomas" sort="Freiberger, Tomas" uniqKey="Freiberger T" first="Tomas" last="Freiberger">Tomas Freiberger</name>
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<name sortKey="Genest, Jacques" sort="Genest, Jacques" uniqKey="Genest J" first="Jacques" last="Genest">Jacques Genest</name>
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<name sortKey="Harada Shiba, Mariko" sort="Harada Shiba, Mariko" uniqKey="Harada Shiba M" first="Mariko" last="Harada-Shiba">Mariko Harada-Shiba</name>
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<name sortKey="Mata, Pedro" sort="Mata, Pedro" uniqKey="Mata P" first="Pedro" last="Mata">Pedro Mata</name>
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<nlm:affiliation>Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.</nlm:affiliation>
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<nlm:affiliation>Sultan Qaboos University Hospital, Muscat, Oman.</nlm:affiliation>
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<name sortKey="Ray, Kausik K" sort="Ray, Kausik K" uniqKey="Ray K" first="Kausik K" last="Ray">Kausik K. Ray</name>
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<nlm:affiliation>School of Public Health, Imperial College London, London, UK.</nlm:affiliation>
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<nlm:affiliation>Department of Internal Medicine, Erasmus MC, Rotterdam, Netherlands.</nlm:affiliation>
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<nlm:affiliation>Lipid Clinic Heart Institute (InCor), University of São Paulo Medical School Hospital, and Preventive Medicine Centre and Cardiology Program, Hospital Israelita Albert Einstein, São Paulo, Brazil. Electronic address: rdsf@uol.com.br.</nlm:affiliation>
</affiliation>
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<name sortKey="Gidding, Samuel S" sort="Gidding, Samuel S" uniqKey="Gidding S" first="Samuel S" last="Gidding">Samuel S. Gidding</name>
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<nlm:affiliation>Nemours Cardiac Center, A I DuPont Hospital for Children, Wilmington, DE, USA.</nlm:affiliation>
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<name sortKey="Hegele, Robert A" sort="Hegele, Robert A" uniqKey="Hegele R" first="Robert A" last="Hegele">Robert A. Hegele</name>
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<nlm:affiliation>Department of Medicine and Robarts Research Institute, Schulich School of Medicine, Western University, London, ON, Canada.</nlm:affiliation>
</affiliation>
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<name sortKey="Cuchel, Marina A" sort="Cuchel, Marina A" uniqKey="Cuchel M" first="Marina A" last="Cuchel">Marina A. Cuchel</name>
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<nlm:affiliation>Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.</nlm:affiliation>
</affiliation>
</author>
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<name sortKey="Barter, Philip J" sort="Barter, Philip J" uniqKey="Barter P" first="Philip J" last="Barter">Philip J. Barter</name>
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<nlm:affiliation>School of Medical Sciences, University of New South Wales, Sydney, NSW, Australia.</nlm:affiliation>
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<name sortKey="Watts, Gerald F" sort="Watts, Gerald F" uniqKey="Watts G" first="Gerald F" last="Watts">Gerald F. Watts</name>
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<nlm:affiliation>Lipid Disorders Clinic, Royal Perth Hospital, The University of Western Australia, Perth, WA, Australia.</nlm:affiliation>
</affiliation>
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<author>
<name sortKey="Baum, Seth J" sort="Baum, Seth J" uniqKey="Baum S" first="Seth J" last="Baum">Seth J. Baum</name>
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<nlm:affiliation>Preventive Cardiology, Christine E Lynn Women's Health & Wellness Institute, Boca Raton Regional Hospital, Boca Raton, FL, USA.</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 Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy; IRCCS Multimedica, Milan, Italy.</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>Pitié-Sâlpetrière University Hospital, Paris, France.</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>University of Amsterdam, Academic Medical Center (AMC), Amsterdam, Netherlands.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Folco, Emanuela" sort="Folco, Emanuela" uniqKey="Folco E" first="Emanuela" last="Folco">Emanuela Folco</name>
<affiliation>
<nlm:affiliation>International Atherosclerosis Society, Milan, Italy.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Freiberger, Tomas" sort="Freiberger, Tomas" uniqKey="Freiberger T" first="Tomas" last="Freiberger">Tomas Freiberger</name>
<affiliation>
<nlm:affiliation>Molecular Genetics Lab, Centre for Cardiovascular Surgery and Transplantation, and Ceitec, Masaryk University, Brno, Czech Republic.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Genest, Jacques" sort="Genest, Jacques" uniqKey="Genest J" first="Jacques" last="Genest">Jacques Genest</name>
<affiliation>
<nlm:affiliation>McGill University Health Center, Royal Victoria Hospital, Montreal, QC, 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>University of Amsterdam, Academic Medical Center (AMC), Amsterdam, Netherlands.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Harada Shiba, Mariko" sort="Harada Shiba, Mariko" uniqKey="Harada Shiba M" first="Mariko" last="Harada-Shiba">Mariko Harada-Shiba</name>
<affiliation>
<nlm:affiliation>National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan.</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, Institute of Cardiovascular Science, University College of London, London, UK.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Jackson, Ann S" sort="Jackson, Ann S" uniqKey="Jackson A" first="Ann S" last="Jackson">Ann S. Jackson</name>
<affiliation>
<nlm:affiliation>International Atherosclerosis Society, Houston, TX, USA.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Mata, Pedro" sort="Mata, Pedro" uniqKey="Mata P" first="Pedro" last="Mata">Pedro Mata</name>
<affiliation>
<nlm:affiliation>Fundación Hipercolesterolemia Familiar, Madrid, Spain.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Moriarty, Patrick M" sort="Moriarty, Patrick M" uniqKey="Moriarty P" first="Patrick M" last="Moriarty">Patrick M. Moriarty</name>
<affiliation>
<nlm:affiliation>Atherosclerosis and Lipoprotein-Apheresis Center, University of Kansas Medical Center, Kansas City, KS, USA.</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>Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Al Rasadi, Khalid" sort="Al Rasadi, Khalid" uniqKey="Al Rasadi K" first="Khalid" last="Al-Rasadi">Khalid Al-Rasadi</name>
<affiliation>
<nlm:affiliation>Sultan Qaboos University Hospital, Muscat, Oman.</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>School of Public Health, Imperial College London, London, UK.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Reiner, Zelijko" sort="Reiner, Zelijko" uniqKey="Reiner Z" first="Zelijko" last="Reiner">Zelijko Reiner</name>
<affiliation>
<nlm:affiliation>European Association for Cardiovascular Prevention and Rehabilitations, Zagreb, Croatia.</nlm:affiliation>
</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>
<nlm:affiliation>Department of Internal Medicine, Erasmus MC, Rotterdam, Netherlands.</nlm:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Yamashita, Shizuya" sort="Yamashita, Shizuya" uniqKey="Yamashita S" first="Shizuya" last="Yamashita">Shizuya Yamashita</name>
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<nlm:affiliation>Osaka University Graduate School of Medicine, Suita, Osaka, Japan.</nlm:affiliation>
</affiliation>
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<div type="abstract" xml:lang="en">Familial hypercholesterolaemia is common in individuals who had a myocardial infarction at a young age. As many as one in 200 people could have heterozygous familial hypercholesterolaemia, and up to one in 300 000 individuals could be homozygous. The phenotypes of heterozygous and homozygous familial hypercholesterolaemia overlap considerably; the response to treatment is also heterogeneous. In this Review, we aim to define a phenotype for severe familial hypercholesterolaemia and identify people at highest risk for cardiovascular disease, based on the concentration of LDL cholesterol in blood and individuals' responsiveness to conventional lipid-lowering treatment. We assess the importance of molecular characterisation and define the role of other cardiovascular risk factors and advanced subclinical coronary atherosclerosis in risk stratification. Individuals with severe familial hypercholesterolaemia might benefit in particular from early and more aggressive cholesterol-lowering treatment (eg, with PCSK9 inhibitors). In addition to better tailored therapy, more precise characterisation of individuals with severe familial hypercholesterolaemia could improve resource use.</div>
</front>
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<AbstractText>Familial hypercholesterolaemia is common in individuals who had a myocardial infarction at a young age. As many as one in 200 people could have heterozygous familial hypercholesterolaemia, and up to one in 300 000 individuals could be homozygous. The phenotypes of heterozygous and homozygous familial hypercholesterolaemia overlap considerably; the response to treatment is also heterogeneous. In this Review, we aim to define a phenotype for severe familial hypercholesterolaemia and identify people at highest risk for cardiovascular disease, based on the concentration of LDL cholesterol in blood and individuals' responsiveness to conventional lipid-lowering treatment. We assess the importance of molecular characterisation and define the role of other cardiovascular risk factors and advanced subclinical coronary atherosclerosis in risk stratification. Individuals with severe familial hypercholesterolaemia might benefit in particular from early and more aggressive cholesterol-lowering treatment (eg, with PCSK9 inhibitors). In addition to better tailored therapy, more precise characterisation of individuals with severe familial hypercholesterolaemia could improve resource use.</AbstractText>
<CopyrightInformation>Copyright © 2016 Elsevier Ltd. All rights reserved.</CopyrightInformation>
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<Author ValidYN="Y">
<LastName>Santos</LastName>
<ForeName>Raul D</ForeName>
<Initials>RD</Initials>
<AffiliationInfo>
<Affiliation>Lipid Clinic Heart Institute (InCor), University of São Paulo Medical School Hospital, and Preventive Medicine Centre and Cardiology Program, Hospital Israelita Albert Einstein, São Paulo, Brazil. Electronic address: rdsf@uol.com.br.</Affiliation>
</AffiliationInfo>
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<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>
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<LastName>Hegele</LastName>
<ForeName>Robert A</ForeName>
<Initials>RA</Initials>
<AffiliationInfo>
<Affiliation>Department of Medicine and Robarts Research Institute, Schulich School of Medicine, Western University, London, ON, Canada.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y">
<LastName>Cuchel</LastName>
<ForeName>Marina A</ForeName>
<Initials>MA</Initials>
<AffiliationInfo>
<Affiliation>Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.</Affiliation>
</AffiliationInfo>
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<LastName>Barter</LastName>
<ForeName>Philip J</ForeName>
<Initials>PJ</Initials>
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<Affiliation>School of Medical Sciences, University of New South Wales, Sydney, NSW, Australia.</Affiliation>
</AffiliationInfo>
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<LastName>Watts</LastName>
<ForeName>Gerald F</ForeName>
<Initials>GF</Initials>
<AffiliationInfo>
<Affiliation>Lipid Disorders Clinic, Royal Perth Hospital, The University of Western Australia, Perth, WA, Australia.</Affiliation>
</AffiliationInfo>
</Author>
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<LastName>Baum</LastName>
<ForeName>Seth J</ForeName>
<Initials>SJ</Initials>
<AffiliationInfo>
<Affiliation>Preventive Cardiology, Christine E Lynn Women's Health & Wellness Institute, Boca Raton Regional Hospital, Boca Raton, FL, USA.</Affiliation>
</AffiliationInfo>
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<LastName>Catapano</LastName>
<ForeName>Alberico L</ForeName>
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