The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causes
Main Author: | |
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Publication Date: | 2018 |
Other Authors: | , , , , , , |
Format: | Conference object |
Language: | eng |
Source: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Download full: | http://hdl.handle.net/10400.18/6247 |
Summary: | Introduction: (i) Cardiovascular disease (CVD), particularly coronary heart disease (CHD) and stroke, are the leading cause of morbidity and mortality worldwide; (ii) Dyslipidaemia is an important but modifiable cardiovascular risk factor. For instance, Familial Hypercholesterolaemia (FH) is a monogenic autosomal condition where patients present very high LDL-C values and an increase cardiovascular risk; (iii) FH is caused by mutations in 3 genes: LDLR, APOB and PCSK9. However in only about 40%-50% of the cases an FH causing mutation is found. |
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The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causesFamilial HypercholesterolaemiaCardiovascular DiseasesDyslipidaemiaDoenças Cardio e Cérebro-vascularesIntroduction: (i) Cardiovascular disease (CVD), particularly coronary heart disease (CHD) and stroke, are the leading cause of morbidity and mortality worldwide; (ii) Dyslipidaemia is an important but modifiable cardiovascular risk factor. For instance, Familial Hypercholesterolaemia (FH) is a monogenic autosomal condition where patients present very high LDL-C values and an increase cardiovascular risk; (iii) FH is caused by mutations in 3 genes: LDLR, APOB and PCSK9. However in only about 40%-50% of the cases an FH causing mutation is found.Instituto Nacional de Saúde Doutor Ricardo Jorge, IPRepositório Científico do Instituto Nacional de SaúdeMariano, C.Medeiros, A.M.Alves, A.C.Chora, J.R.Futema, M.Humphries, S.E.Antunes, M.Bourbon, M.2019-03-20T16:34:26Z2018-012018-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/conferenceObjectapplication/pdfhttp://hdl.handle.net/10400.18/6247enginfo:eu-repo/semantics/embargoedAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-07-20T15:40:50Zoai:repositorio.insa.pt:10400.18/6247Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:40:05.288267Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causes |
title |
The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causes |
spellingShingle |
The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causes Mariano, C. Familial Hypercholesterolaemia Cardiovascular Diseases Dyslipidaemia Doenças Cardio e Cérebro-vasculares |
title_short |
The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causes |
title_full |
The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causes |
title_fullStr |
The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causes |
title_full_unstemmed |
The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causes |
title_sort |
The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causes |
author |
Mariano, C. |
author_facet |
Mariano, C. Medeiros, A.M. Alves, A.C. Chora, J.R. Futema, M. Humphries, S.E. Antunes, M. Bourbon, M. |
author_role |
author |
author2 |
Medeiros, A.M. Alves, A.C. Chora, J.R. Futema, M. Humphries, S.E. Antunes, M. Bourbon, M. |
author2_role |
author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Instituto Nacional de Saúde |
dc.contributor.author.fl_str_mv |
Mariano, C. Medeiros, A.M. Alves, A.C. Chora, J.R. Futema, M. Humphries, S.E. Antunes, M. Bourbon, M. |
dc.subject.por.fl_str_mv |
Familial Hypercholesterolaemia Cardiovascular Diseases Dyslipidaemia Doenças Cardio e Cérebro-vasculares |
topic |
Familial Hypercholesterolaemia Cardiovascular Diseases Dyslipidaemia Doenças Cardio e Cérebro-vasculares |
description |
Introduction: (i) Cardiovascular disease (CVD), particularly coronary heart disease (CHD) and stroke, are the leading cause of morbidity and mortality worldwide; (ii) Dyslipidaemia is an important but modifiable cardiovascular risk factor. For instance, Familial Hypercholesterolaemia (FH) is a monogenic autosomal condition where patients present very high LDL-C values and an increase cardiovascular risk; (iii) FH is caused by mutations in 3 genes: LDLR, APOB and PCSK9. However in only about 40%-50% of the cases an FH causing mutation is found. |
publishDate |
2018 |
dc.date.none.fl_str_mv |
2018-01 2018-01-01T00:00:00Z 2019-03-20T16:34:26Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/conferenceObject |
format |
conferenceObject |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.18/6247 |
url |
http://hdl.handle.net/10400.18/6247 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
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info:eu-repo/semantics/embargoedAccess |
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embargoedAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Instituto Nacional de Saúde Doutor Ricardo Jorge, IP |
publisher.none.fl_str_mv |
Instituto Nacional de Saúde Doutor Ricardo Jorge, IP |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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