Publication
Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study
| dc.contributor.author | Inês, Mónica | |
| dc.contributor.author | Coelho, Teresa | |
| dc.contributor.author | Conceição, Isabel | |
| dc.contributor.author | Ferreira, Lara | |
| dc.contributor.author | de Carvalho, Mamede | |
| dc.contributor.author | Costa, João | |
| dc.date.accessioned | 2020-04-30T09:38:27Z | |
| dc.date.available | 2020-04-30T09:38:27Z | |
| dc.date.issued | 2020-03-06 | |
| dc.date.updated | 2020-04-01T04:10:01Z | |
| dc.description.abstract | 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. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Orphanet Journal of Rare Diseases. 2020 Mar 06;15(1):67 | pt_PT |
| dc.identifier.doi | 10.1186/s13023-020-1340-x | pt_PT |
| dc.identifier.eissn | 1750-1172 | |
| dc.identifier.uri | http://hdl.handle.net/10400.1/13811 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | BMC | pt_PT |
| dc.rights.holder | The Author(s). | |
| dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | pt_PT |
| dc.subject | Amyloidosis | pt_PT |
| dc.subject | Hereditary transthyretin amyloid polyneuropathy | pt_PT |
| dc.subject | Health-related quality of life | pt_PT |
| dc.subject | Patient self-reported outcomes | pt_PT |
| dc.subject | hATTR-PN | pt_PT |
| dc.title | Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.issue | 1 | pt_PT |
| oaire.citation.startPage | 67 | pt_PT |
| oaire.citation.title | Orphanet Journal of Rare Diseases | pt_PT |
| oaire.citation.volume | 15 | pt_PT |
| person.familyName | Ferreira | |
| person.givenName | Lara | |
| person.identifier.ciencia-id | 761A-3037-8E22 | |
| person.identifier.orcid | 0000-0003-2378-7750 | |
| person.identifier.rid | B-7575-2019 | |
| person.identifier.scopus-author-id | 24491766400 | |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |
| relation.isAuthorOfPublication | e93501ac-9707-4e92-bb2c-cc91bc09b428 | |
| relation.isAuthorOfPublication.latestForDiscovery | e93501ac-9707-4e92-bb2c-cc91bc09b428 |