The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causes

Detalhes bibliográficos
Autor(a) principal: Mariano, C.
Data de Publicação: 2018
Outros Autores: Medeiros, A.M., Alves, A.C., Chora, J.R., Futema, M., Humphries, S.E., Antunes, M., Bourbon, M.
Tipo de documento: Artigo de conferência
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/6247
Resumo: 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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spelling 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
dc.rights.driver.fl_str_mv info:eu-repo/semantics/embargoedAccess
eu_rights_str_mv 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
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instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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