Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries
Autor(a) principal: | |
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Data de Publicação: | 2017 |
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/10400.18/4816 |
Resumo: | BACKGROUND: There is little information about familial hypercholesterolemia (FH) epidemiology and care in Ibero-American countries. The Ibero-American FH network aims at reducing the gap on diagnosis and treatment of this disease in the region. OBJECTIVE: To describe clinical, molecular, and organizational characteristics of FH diagnosis in Argentina, Brazil, Chile, Colombia, Mexico, Portugal, Spain, and Uruguay. METHODS: Descriptive analysis of country data related to FH cascade screening, molecular diagnosis, clinical practice guidelines, and patient organization presence in Ibero-America. RESULTS: From a conservative estimation of an FH prevalence of 1 of 500 individuals, there should be 1.2 million heterozygous FH individuals in Ibero-America and roughly 27,400 were diagnosed so far. Only Spain, Brazil, Portugal, and Uruguay have active cascade screening programs. The prevalence of cardiovascular disease ranged from 10% to 42% in member countries, and the highest molecular identification rates are seen in Spain, 8.3%, followed by Portugal, 3.8%, and Uruguay with 2.5%. In the 3 countries with more FH patients identified (Spain, Portugal, and Brazil) between 10 and 15 mutations are responsible for 30% to 47% of all FH cases. Spain and Portugal share 5 of the 10 most common mutations (4 in low density lipoprotein receptor [LDLR] and the APOB3527). Spain and Spanishspeaking Latin American countries share 6 of the most common LDLR mutations and the APOB3527. LDL apheresis is available only in Spain and Portugal and not all countries have specific FH diagnostic and treatment guidelines as well as patient organizations. CONCLUSIONS: Ibero-American countries share similar mutations and gaps in FH care. |
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Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countriesFamilial HypercholesterolemiaAtherosclerosisCholesterolCascade ScreeningMolecular DiagnosisIbero-American CountriesDoenças Cardio e Cérebro-vascularesBACKGROUND: There is little information about familial hypercholesterolemia (FH) epidemiology and care in Ibero-American countries. The Ibero-American FH network aims at reducing the gap on diagnosis and treatment of this disease in the region. OBJECTIVE: To describe clinical, molecular, and organizational characteristics of FH diagnosis in Argentina, Brazil, Chile, Colombia, Mexico, Portugal, Spain, and Uruguay. METHODS: Descriptive analysis of country data related to FH cascade screening, molecular diagnosis, clinical practice guidelines, and patient organization presence in Ibero-America. RESULTS: From a conservative estimation of an FH prevalence of 1 of 500 individuals, there should be 1.2 million heterozygous FH individuals in Ibero-America and roughly 27,400 were diagnosed so far. Only Spain, Brazil, Portugal, and Uruguay have active cascade screening programs. The prevalence of cardiovascular disease ranged from 10% to 42% in member countries, and the highest molecular identification rates are seen in Spain, 8.3%, followed by Portugal, 3.8%, and Uruguay with 2.5%. In the 3 countries with more FH patients identified (Spain, Portugal, and Brazil) between 10 and 15 mutations are responsible for 30% to 47% of all FH cases. Spain and Portugal share 5 of the 10 most common mutations (4 in low density lipoprotein receptor [LDLR] and the APOB3527). Spain and Spanishspeaking Latin American countries share 6 of the most common LDLR mutations and the APOB3527. LDL apheresis is available only in Spain and Portugal and not all countries have specific FH diagnostic and treatment guidelines as well as patient organizations. CONCLUSIONS: Ibero-American countries share similar mutations and gaps in FH care.ElsevierRepositório Científico do Instituto Nacional de SaúdeSantos, R.D.Bourbon, M.Alonso, R.Cuevas, A.Vasques-Cardenas, N.A.Pereira, A.C.Merchan, A.Alves, A.C.Medeiros, A.M.Jannes, C.E.Krieger, J.E.Schreier, L.Perez de Isla, L.Magaña-Torres, M.T.Stoll, M.Mata, N.Dell Oca, N.Corral, P.Asenjo, S.Bañares, V.G.Reyes, X.Mata, P.Ibero-American Familial Hypercholesterolemia Network2021-11-24T01:30:15Z2017-012017-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/4816engJ Clin Lipidol. 2017 Jan - Feb;11(1):160-166. doi: 10.1016/j.jacl.2016.11.004. Epub 2016 Nov 23.1933-287410.1016/j.jacl.2016.11.004info: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:RCAAP2023-07-20T15:40:28Zoai:repositorio.insa.pt:10400.18/4816Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:39:28.250488Repositório 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 |
Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries |
title |
Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries |
spellingShingle |
Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries Santos, R.D. Familial Hypercholesterolemia Atherosclerosis Cholesterol Cascade Screening Molecular Diagnosis Ibero-American Countries Doenças Cardio e Cérebro-vasculares |
title_short |
Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries |
title_full |
Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries |
title_fullStr |
Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries |
title_full_unstemmed |
Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries |
title_sort |
Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries |
author |
Santos, R.D. |
author_facet |
Santos, R.D. Bourbon, M. Alonso, R. Cuevas, A. Vasques-Cardenas, N.A. Pereira, A.C. Merchan, A. Alves, A.C. Medeiros, A.M. Jannes, C.E. Krieger, J.E. Schreier, L. Perez de Isla, L. Magaña-Torres, M.T. Stoll, M. Mata, N. Dell Oca, N. Corral, P. Asenjo, S. Bañares, V.G. Reyes, X. Mata, P. Ibero-American Familial Hypercholesterolemia Network |
author_role |
author |
author2 |
Bourbon, M. Alonso, R. Cuevas, A. Vasques-Cardenas, N.A. Pereira, A.C. Merchan, A. Alves, A.C. Medeiros, A.M. Jannes, C.E. Krieger, J.E. Schreier, L. Perez de Isla, L. Magaña-Torres, M.T. Stoll, M. Mata, N. Dell Oca, N. Corral, P. Asenjo, S. Bañares, V.G. Reyes, X. Mata, P. Ibero-American Familial Hypercholesterolemia Network |
author2_role |
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 |
Santos, R.D. Bourbon, M. Alonso, R. Cuevas, A. Vasques-Cardenas, N.A. Pereira, A.C. Merchan, A. Alves, A.C. Medeiros, A.M. Jannes, C.E. Krieger, J.E. Schreier, L. Perez de Isla, L. Magaña-Torres, M.T. Stoll, M. Mata, N. Dell Oca, N. Corral, P. Asenjo, S. Bañares, V.G. Reyes, X. Mata, P. Ibero-American Familial Hypercholesterolemia Network |
dc.subject.por.fl_str_mv |
Familial Hypercholesterolemia Atherosclerosis Cholesterol Cascade Screening Molecular Diagnosis Ibero-American Countries Doenças Cardio e Cérebro-vasculares |
topic |
Familial Hypercholesterolemia Atherosclerosis Cholesterol Cascade Screening Molecular Diagnosis Ibero-American Countries Doenças Cardio e Cérebro-vasculares |
description |
BACKGROUND: There is little information about familial hypercholesterolemia (FH) epidemiology and care in Ibero-American countries. The Ibero-American FH network aims at reducing the gap on diagnosis and treatment of this disease in the region. OBJECTIVE: To describe clinical, molecular, and organizational characteristics of FH diagnosis in Argentina, Brazil, Chile, Colombia, Mexico, Portugal, Spain, and Uruguay. METHODS: Descriptive analysis of country data related to FH cascade screening, molecular diagnosis, clinical practice guidelines, and patient organization presence in Ibero-America. RESULTS: From a conservative estimation of an FH prevalence of 1 of 500 individuals, there should be 1.2 million heterozygous FH individuals in Ibero-America and roughly 27,400 were diagnosed so far. Only Spain, Brazil, Portugal, and Uruguay have active cascade screening programs. The prevalence of cardiovascular disease ranged from 10% to 42% in member countries, and the highest molecular identification rates are seen in Spain, 8.3%, followed by Portugal, 3.8%, and Uruguay with 2.5%. In the 3 countries with more FH patients identified (Spain, Portugal, and Brazil) between 10 and 15 mutations are responsible for 30% to 47% of all FH cases. Spain and Portugal share 5 of the 10 most common mutations (4 in low density lipoprotein receptor [LDLR] and the APOB3527). Spain and Spanishspeaking Latin American countries share 6 of the most common LDLR mutations and the APOB3527. LDL apheresis is available only in Spain and Portugal and not all countries have specific FH diagnostic and treatment guidelines as well as patient organizations. CONCLUSIONS: Ibero-American countries share similar mutations and gaps in FH care. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017-01 2017-01-01T00:00:00Z 2021-11-24T01:30:15Z |
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/10400.18/4816 |
url |
http://hdl.handle.net/10400.18/4816 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
J Clin Lipidol. 2017 Jan - Feb;11(1):160-166. doi: 10.1016/j.jacl.2016.11.004. Epub 2016 Nov 23. 1933-2874 10.1016/j.jacl.2016.11.004 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
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openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Elsevier |
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Elsevier |
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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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