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

2020Journal article Open access
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dc.contributor.authorInês, Mónica
dc.contributor.authorCoelho, Teresa
dc.contributor.authorConceição, Isabel
dc.contributor.authorFerreira, Lara
dc.contributor.authorde Carvalho, Mamede
dc.contributor.authorCosta, João
dc.date.accessioned2022-06-30T11:22:17Z
dc.date.available2022-06-30T11:22:17Z
dc.date.issued2020
dc.description.abstractBackground: 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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationInês M, Coelho T, Conceição I, Ferreira L, de Carvalho M, Costa J. Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study. Orphanet J Rare Dis. 2020;15(1):67. doi:10.1186/s13023-020-1340-xpt_PT
dc.identifier.doi10.1186/s13023-020-1340-xpt_PT
dc.identifier.issn1750-1172
dc.identifier.urihttp://hdl.handle.net/10400.16/2688
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherBioMed Centralpt_PT
dc.relation.publisherversionhttps://ojrd.biomedcentral.com/articles/10.1186/s13023-020-1340-xpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectAmyloidosispt_PT
dc.subjectHealth-related quality of lifept_PT
dc.subjectHereditary transthyretin amyloid polyneuropathypt_PT
dc.subjectPatient self-reported outcomespt_PT
dc.subjecthATTR-PNpt_PT
dc.titleHealth-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational studypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceEnglandpt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPage67pt_PT
oaire.citation.titleOrphanet Journal of Rare Diseasespt_PT
oaire.citation.volume15pt_PT
person.familyNameCoelho
person.givenNameTeresa
person.identifier.ciencia-idC71E-3343-F445
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicationca69c0a3-d48a-4b92-bbf7-c17288d609b7
relation.isAuthorOfPublication.latestForDiscoveryca69c0a3-d48a-4b92-bbf7-c17288d609b7

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