Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study

Detalhes bibliográficos
Autor(a) principal: Inês, Mónica
Data de Publicação: 2020
Outros Autores: Coelho, Teresa, Conceição, isabel, Ferreira, Lara, Carvalho, Mamede, Costa, João
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10451/49901
Resumo: © The Author(s). 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
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spelling Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational studyAmyloidosisHealth-related quality of lifeHereditary transthyretin amyloid polyneuropathyPatient self-reported outcomeshATTR-PN© The Author(s). 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.Background: Hereditary Transthyretin Amyloidosis Polyneuropathy is a rare life-threatening neurologic disease that imposes considerable mortality and it is associated with progressive related disabilities. In this study, we aimed to assess the effect of the disease across health-related quality of life dimensions, in both carriers of the mutation and patients, to compare health-related quality of life with general population, as well as to explore health-related quality of life prognostic factors among patients, including disease progression and treatment. Methods: This study was a multi-institutional, longitudinal, prospective, observational study of hereditary Transthyretin Amyloidosis Polyneuropathy Portuguese adult subjects (621 asymptomatic carriers and 733 symptomatic patients) enrolled in the Transthyretin Amyloidosis Outcomes Survey. Health-related quality of life was captured with the preference-based instrument EQ-5D-3 L. For general population the dataset included all subjects enrolled in a representative national study (n = 1500). Different econometric models were specified; multivariate probit, generalized linear model and generalized estimating equations model; including demographic and clinical covariates. Results: Hereditary Transthyretin Amyloidosis Polyneuropathy patients have their health status severely impaired in all quality of life dimensions and more anxiety/depression problems were found among asymptomatic carriers. No differences on utility were found between carriers and general population (p = 0.209). Among patients, the utility value is estimated to be 0.51 (0.021), a decrement of 0.27 as compared with general population utility. Higher disease duration, advanced disease stage and not receiving treatment are associated with impaired health-related quality of life. No differences were found between genders (p = 0.910) or between late (≥50 years) and early-onset patients (p = 0.254). The utility estimate ranged from 0.63 (0.009) in stage I to 0.01 (0.005) in stage IV. Conclusions: Hereditary Transthyretin Amyloidosis Polyneuropathy symptoms and progressive associated disabilities substantially decrease patient's health-related quality of life. Clinical strategies focused on health-related quality of life preservation such as close follow-up of asymptomatic carriers, prompt diagnosis and adequate, early treatment would benefit patient's long-term outcomes, slowing the progressive decline in health-related quality of life.Springer NatureRepositório da Universidade de LisboaInês, MónicaCoelho, TeresaConceição, isabelFerreira, LaraCarvalho, MamedeCosta, João2021-10-15T13:21:25Z20202020-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/49901engOrphanet J Rare Dis. 2020 Mar 6;15(1):6710.1186/s13023-020-1340-x1750-1172info: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:RCAAP2023-11-08T16:53:52Zoai:repositorio.ul.pt:10451/49901Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:01:25.691759Repositório 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 Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study
title Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study
spellingShingle Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study
Inês, Mónica
Amyloidosis
Health-related quality of life
Hereditary transthyretin amyloid polyneuropathy
Patient self-reported outcomes
hATTR-PN
title_short Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study
title_full Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study
title_fullStr Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study
title_full_unstemmed Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study
title_sort Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study
author Inês, Mónica
author_facet Inês, Mónica
Coelho, Teresa
Conceição, isabel
Ferreira, Lara
Carvalho, Mamede
Costa, João
author_role author
author2 Coelho, Teresa
Conceição, isabel
Ferreira, Lara
Carvalho, Mamede
Costa, João
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório da Universidade de Lisboa
dc.contributor.author.fl_str_mv Inês, Mónica
Coelho, Teresa
Conceição, isabel
Ferreira, Lara
Carvalho, Mamede
Costa, João
dc.subject.por.fl_str_mv Amyloidosis
Health-related quality of life
Hereditary transthyretin amyloid polyneuropathy
Patient self-reported outcomes
hATTR-PN
topic Amyloidosis
Health-related quality of life
Hereditary transthyretin amyloid polyneuropathy
Patient self-reported outcomes
hATTR-PN
description © The Author(s). 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
publishDate 2020
dc.date.none.fl_str_mv 2020
2020-01-01T00:00:00Z
2021-10-15T13:21:25Z
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/10451/49901
url http://hdl.handle.net/10451/49901
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Orphanet J Rare Dis. 2020 Mar 6;15(1):67
10.1186/s13023-020-1340-x
1750-1172
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
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dc.publisher.none.fl_str_mv Springer Nature
publisher.none.fl_str_mv Springer Nature
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
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reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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