Familial hypercholesterolaemia: a global call to arms
Autor(a) principal: | |
---|---|
Data de Publicação: | 2015 |
Outros Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.18/3174 |
Resumo: | Familial Hypercholesterolaemia (FH) is the commonest autosomal co-dominantly inherited condition affecting man. It is caused by mutation in one of three genes, encoding the low-density lipoprotein (LDL) receptor, or the gene for apolipoprotein B (which is the major protein component of the LDL particle), or in the gene coding for PCSK9 (which is involved in the degradation of the LDLreceptor during its cellular recycling). These mutations result in impaired LDL metabolism, leading to life-long elevations in LDLcholesterol (LDL-C) and development of premature atherosclerotic cardiovascular disease (ASCVD) [1e3]. If left untreated, the relative risk of premature coronary artery disease is significantly higher in heterozygous patients than unaffected individuals, with most untreated homozygotes developing ASCVD before the age of 20 and generally not surviving past 30 years [2e5]. Although early detection and treatment with statins and other LDL-C lowering therapies can improve survival, FH remains widely underdiagnosed and undertreated, thereby representing a major global public health challenge. |
id |
RCAP_a2c37b92695958b93dbf83a35901ce48 |
---|---|
oai_identifier_str |
oai:repositorio.insa.pt:10400.18/3174 |
network_acronym_str |
RCAP |
network_name_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository_id_str |
7160 |
spelling |
Familial hypercholesterolaemia: a global call to armsFamilial HypercholesterolaemiaDoenças Cardio e Cérebro-vascularesFamilial Hypercholesterolaemia (FH) is the commonest autosomal co-dominantly inherited condition affecting man. It is caused by mutation in one of three genes, encoding the low-density lipoprotein (LDL) receptor, or the gene for apolipoprotein B (which is the major protein component of the LDL particle), or in the gene coding for PCSK9 (which is involved in the degradation of the LDLreceptor during its cellular recycling). These mutations result in impaired LDL metabolism, leading to life-long elevations in LDLcholesterol (LDL-C) and development of premature atherosclerotic cardiovascular disease (ASCVD) [1e3]. If left untreated, the relative risk of premature coronary artery disease is significantly higher in heterozygous patients than unaffected individuals, with most untreated homozygotes developing ASCVD before the age of 20 and generally not surviving past 30 years [2e5]. Although early detection and treatment with statins and other LDL-C lowering therapies can improve survival, FH remains widely underdiagnosed and undertreated, thereby representing a major global public health challenge.ElsevierRepositório Científico do Instituto Nacional de SaúdeVallejo-Vaz, A.J.Kondapally Seshasai, S.R.Cole, D.Hovingh, G.K.Kastelein, J.J.Mata, P.Raal, F.J.Santos, R.D.Soran, H.Watts, G.F.Abifadel, M.Aguilar-Salinas, C.A.Akram, A.Alnouri, F.Alonso, R.Al-Rasadi, K.Banach, M.Bogsrud, M.P.Bourbon, M.Bruckert, E.Car, J.Corral, P.Descamps, O.Dieplinger, H.Durst, R.Freiberger, T.Gaspar, I.M.Genest, J.Harada-Shiba, M.Jiang, L.Kayikcioglu, M.Lam, C.S.Latkovskis, G.Laufs, U.Liberopoulos, E.Nilsson, L.Nordestgaard, B.G.O'Donoghue, J.M.Sahebkar, A.Schunkert, H.Shehab, A.Stoll, M.Su, TCSusekov, A.Widén, E.Catapano, A.L.Ray, K.K.2015-09-30T12:12:29Z2015-09-182015-09-18T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/3174engAtherosclerosis. 2015 Nov;243(1):257-9. doi: 10.1016/j.atherosclerosis.2015.09.021. Epub 2015 Sep 18.0021-915010.1016/j.atherosclerosis.2015.09.021info: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:RCAAP2023-07-20T15:39:41Zoai:repositorio.insa.pt:10400.18/3174Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:38:08.848982Repositório 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 |
Familial hypercholesterolaemia: a global call to arms |
title |
Familial hypercholesterolaemia: a global call to arms |
spellingShingle |
Familial hypercholesterolaemia: a global call to arms Vallejo-Vaz, A.J. Familial Hypercholesterolaemia Doenças Cardio e Cérebro-vasculares |
title_short |
Familial hypercholesterolaemia: a global call to arms |
title_full |
Familial hypercholesterolaemia: a global call to arms |
title_fullStr |
Familial hypercholesterolaemia: a global call to arms |
title_full_unstemmed |
Familial hypercholesterolaemia: a global call to arms |
title_sort |
Familial hypercholesterolaemia: a global call to arms |
author |
Vallejo-Vaz, A.J. |
author_facet |
Vallejo-Vaz, A.J. Kondapally Seshasai, S.R. Cole, D. Hovingh, G.K. Kastelein, J.J. Mata, P. Raal, F.J. Santos, R.D. Soran, H. Watts, G.F. Abifadel, M. Aguilar-Salinas, C.A. Akram, A. Alnouri, F. Alonso, R. Al-Rasadi, K. Banach, M. Bogsrud, M.P. Bourbon, M. Bruckert, E. Car, J. Corral, P. Descamps, O. Dieplinger, H. Durst, R. Freiberger, T. Gaspar, I.M. Genest, J. Harada-Shiba, M. Jiang, L. Kayikcioglu, M. Lam, C.S. Latkovskis, G. Laufs, U. Liberopoulos, E. Nilsson, L. Nordestgaard, B.G. O'Donoghue, J.M. Sahebkar, A. Schunkert, H. Shehab, A. Stoll, M. Su, TC Susekov, A. Widén, E. Catapano, A.L. Ray, K.K. |
author_role |
author |
author2 |
Kondapally Seshasai, S.R. Cole, D. Hovingh, G.K. Kastelein, J.J. Mata, P. Raal, F.J. Santos, R.D. Soran, H. Watts, G.F. Abifadel, M. Aguilar-Salinas, C.A. Akram, A. Alnouri, F. Alonso, R. Al-Rasadi, K. Banach, M. Bogsrud, M.P. Bourbon, M. Bruckert, E. Car, J. Corral, P. Descamps, O. Dieplinger, H. Durst, R. Freiberger, T. Gaspar, I.M. Genest, J. Harada-Shiba, M. Jiang, L. Kayikcioglu, M. Lam, C.S. Latkovskis, G. Laufs, U. Liberopoulos, E. Nilsson, L. Nordestgaard, B.G. O'Donoghue, J.M. Sahebkar, A. Schunkert, H. Shehab, A. Stoll, M. Su, TC Susekov, A. Widén, E. Catapano, A.L. Ray, K.K. |
author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author 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 |
Vallejo-Vaz, A.J. Kondapally Seshasai, S.R. Cole, D. Hovingh, G.K. Kastelein, J.J. Mata, P. Raal, F.J. Santos, R.D. Soran, H. Watts, G.F. Abifadel, M. Aguilar-Salinas, C.A. Akram, A. Alnouri, F. Alonso, R. Al-Rasadi, K. Banach, M. Bogsrud, M.P. Bourbon, M. Bruckert, E. Car, J. Corral, P. Descamps, O. Dieplinger, H. Durst, R. Freiberger, T. Gaspar, I.M. Genest, J. Harada-Shiba, M. Jiang, L. Kayikcioglu, M. Lam, C.S. Latkovskis, G. Laufs, U. Liberopoulos, E. Nilsson, L. Nordestgaard, B.G. O'Donoghue, J.M. Sahebkar, A. Schunkert, H. Shehab, A. Stoll, M. Su, TC Susekov, A. Widén, E. Catapano, A.L. Ray, K.K. |
dc.subject.por.fl_str_mv |
Familial Hypercholesterolaemia Doenças Cardio e Cérebro-vasculares |
topic |
Familial Hypercholesterolaemia Doenças Cardio e Cérebro-vasculares |
description |
Familial Hypercholesterolaemia (FH) is the commonest autosomal co-dominantly inherited condition affecting man. It is caused by mutation in one of three genes, encoding the low-density lipoprotein (LDL) receptor, or the gene for apolipoprotein B (which is the major protein component of the LDL particle), or in the gene coding for PCSK9 (which is involved in the degradation of the LDLreceptor during its cellular recycling). These mutations result in impaired LDL metabolism, leading to life-long elevations in LDLcholesterol (LDL-C) and development of premature atherosclerotic cardiovascular disease (ASCVD) [1e3]. If left untreated, the relative risk of premature coronary artery disease is significantly higher in heterozygous patients than unaffected individuals, with most untreated homozygotes developing ASCVD before the age of 20 and generally not surviving past 30 years [2e5]. Although early detection and treatment with statins and other LDL-C lowering therapies can improve survival, FH remains widely underdiagnosed and undertreated, thereby representing a major global public health challenge. |
publishDate |
2015 |
dc.date.none.fl_str_mv |
2015-09-30T12:12:29Z 2015-09-18 2015-09-18T00:00:00Z |
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/10400.18/3174 |
url |
http://hdl.handle.net/10400.18/3174 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Atherosclerosis. 2015 Nov;243(1):257-9. doi: 10.1016/j.atherosclerosis.2015.09.021. Epub 2015 Sep 18. 0021-9150 10.1016/j.atherosclerosis.2015.09.021 |
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 |
Elsevier |
publisher.none.fl_str_mv |
Elsevier |
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 |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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 |
repository.mail.fl_str_mv |
|
_version_ |
1799132117867692032 |