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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.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>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\u2009L. For general population the dataset included all subjects enrolled in a representative national study (<jats:italic>n<\/jats:italic>\u2009=\u20091500). Different econometric models were specified; multivariate probit, generalized linear model and generalized estimating equations model; including demographic and clinical covariates.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>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 (<jats:italic>p<\/jats:italic>\u2009=\u20090.209). 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 (<jats:italic>p<\/jats:italic>\u2009=\u20090.910) or between late (\u226550\u2009years) and early-onset patients (<jats:italic>p<\/jats:italic>\u2009=\u20090.254). The utility estimate ranged from 0.63 (0.009) in stage I to 0.01 (0.005) in stage IV.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Hereditary Transthyretin Amyloidosis Polyneuropathy symptoms and progressive associated disabilities substantially decrease patient\u2019s 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\u2019s long-term outcomes, slowing the progressive decline in health-related quality of life.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-020-1340-x","type":"journal-article","created":{"date-parts":[[2020,3,6]],"date-time":"2020-03-06T18:02:57Z","timestamp":1583517777000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Health-related quality of life in hereditary transthyretin amyloidosis polyneuropathy: a prospective, observational study"],"prefix":"10.1186","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3631-4995","authenticated-orcid":false,"given":"M\u00f3nica","family":"In\u00eas","sequence":"first","affiliation":[]},{"given":"Teresa","family":"Coelho","sequence":"additional","affiliation":[]},{"given":"Isabel","family":"Concei\u00e7\u00e3o","sequence":"additional","affiliation":[]},{"given":"Lara","family":"Ferreira","sequence":"additional","affiliation":[]},{"given":"Mamede","family":"de Carvalho","sequence":"additional","affiliation":[]},{"given":"Jo\u00e3o","family":"Costa","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2020,3,6]]},"reference":[{"issue":"3","key":"1340_CR1","doi-asserted-by":"publisher","first-page":"408","DOI":"10.1093\/brain\/75.3.408","volume":"75","author":"C Andrade","year":"1952","unstructured":"Andrade C. 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BMC Med Res Methodol. 2016;16:63.","journal-title":"BMC Med Res Methodol"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-020-1340-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s13023-020-1340-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-020-1340-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,3,6]],"date-time":"2021-03-06T00:59:15Z","timestamp":1614992355000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-020-1340-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,3,6]]},"references-count":46,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["1340"],"URL":"https:\/\/doi.org\/10.1186\/s13023-020-1340-x","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,3,6]]},"assertion":[{"value":"18 July 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 February 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 March 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"All THAOS study sites received ethical or institutional review board approval prior to subject enrolment, and each subject provided written informed consent. The current study protocol was approved by the Portuguese National Data Protection Committee (file number 9309\/2016).","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"MI is Outcomes & Evidence Senior Manager, full-time employee of Pfizer and hold stock and\/or stock options. TC received financial support from Alnylam, Ionis, and Pfizer to attend scientific meetings and personal fees from Alnylam and Pfizer to provide scientific lectures. IC acknowledges financial support as primary investigator of clinical studies from FoldRx Pharmaceuticals\/Pfizer Inc., Alnylam Pharmaceuticals and Ionis Pharmaceuticals. She also received research support from Pfizer and serves on the THAOS scientific advisory board, financially supported from Pfizer. IC also participates in medical advisory boards promoted by Alnylam and Pfizer. LF, MC and JC report no disclosures relevant to the manuscript.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"67"}}