Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?

Detalhes bibliográficos
Autor(a) principal: Medeiros, Ana Margarida
Data de Publicação: 2023
Outros Autores: Bourbon, Mafalda
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.18/9080
Resumo: Review
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spelling Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?Familial hypercholesterolemiaFHDyslipidemiaLDLRFH ScreeningHigh CholesterolHipercolesterolemia FamiliarColesterolDoenças Cardio e Cérebro-vascularesReviewPurpose of Review: Lipid measurements and genetic testing are the main diagnostic tools for FH screening that are available in many countries. A lipid profile is widely accessible, and genetic testing, although available worldwide, in some countries is only performed in a research context. Still FH is diagnosed late, showing lack of early screening programs worldwide. Recent Findings: Pediatric screening of FH was recently recognized by the European Commission Public Health Best Practice Portal as one on the best practices in non-communicable disease prevention. The early diagnosis of FH and the lowering of LDL-C values over lifespan can reduce the risk of coronary artery disease and offer health and socioeconomic gains. Summary: Current knowledge about FH shows that early detection through appropriate screening needs to become a priority in healthcare systems worldwide. Governmental programs for FH identification should be implemented to unify the diagnosis and increase patient identification.SpringerRepositório Científico do Instituto Nacional de SaúdeMedeiros, Ana MargaridaBourbon, Mafalda2024-02-12T11:51:39Z2023-03-022023-03-02T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/9080engCurr Atheroscler Rep. 2023 Apr;25(4):127-132. doi: 10.1007/s11883-023-01091-5. Epub 2023 Mar 2. Review1534-624210.1007/s11883-023-01091-5info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-02-17T01:31:06Zoai:repositorio.insa.pt:10400.18/9080Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:38:33.056567Repositório 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 Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?
title Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?
spellingShingle Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?
Medeiros, Ana Margarida
Familial hypercholesterolemia
FH
Dyslipidemia
LDLR
FH Screening
High Cholesterol
Hipercolesterolemia Familiar
Colesterol
Doenças Cardio e Cérebro-vasculares
title_short Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?
title_full Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?
title_fullStr Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?
title_full_unstemmed Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?
title_sort Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?
author Medeiros, Ana Margarida
author_facet Medeiros, Ana Margarida
Bourbon, Mafalda
author_role author
author2 Bourbon, Mafalda
author2_role author
dc.contributor.none.fl_str_mv Repositório Científico do Instituto Nacional de Saúde
dc.contributor.author.fl_str_mv Medeiros, Ana Margarida
Bourbon, Mafalda
dc.subject.por.fl_str_mv Familial hypercholesterolemia
FH
Dyslipidemia
LDLR
FH Screening
High Cholesterol
Hipercolesterolemia Familiar
Colesterol
Doenças Cardio e Cérebro-vasculares
topic Familial hypercholesterolemia
FH
Dyslipidemia
LDLR
FH Screening
High Cholesterol
Hipercolesterolemia Familiar
Colesterol
Doenças Cardio e Cérebro-vasculares
description Review
publishDate 2023
dc.date.none.fl_str_mv 2023-03-02
2023-03-02T00:00:00Z
2024-02-12T11:51:39Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.18/9080
url http://hdl.handle.net/10400.18/9080
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Curr Atheroscler Rep. 2023 Apr;25(4):127-132. doi: 10.1007/s11883-023-01091-5. Epub 2023 Mar 2. Review
1534-6242
10.1007/s11883-023-01091-5
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Springer
publisher.none.fl_str_mv Springer
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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collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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