Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study
Autor(a) principal: | |
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Data de Publicação: | 2020 |
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/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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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 |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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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 |
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Orphanet J Rare Dis. 2020 Mar 6;15(1):67 10.1186/s13023-020-1340-x 1750-1172 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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Springer Nature |
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Springer Nature |
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