{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T09:32:02Z","timestamp":1766050322190,"version":"3.40.5"},"reference-count":30,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,4,12]],"date-time":"2023-04-12T00:00:00Z","timestamp":1681257600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004663","name":"Ministry of Science and Technology, Taiwan","doi-asserted-by":"publisher","award":["MOST 108\u20102314\u2010B\u2010006\u2010043\u2010MY2","MOST 110\u20102314\u2010B\u2010006\u2010054\u2010MY2"],"award-info":[{"award-number":["MOST 108\u20102314\u2010B\u2010006\u2010043\u2010MY2","MOST 110\u20102314\u2010B\u2010006\u2010054\u2010MY2"]}],"id":[{"id":"10.13039\/501100004663","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Hereditary amyloid transthyretin (ATTRv) amyloidosis with polyneuropathy, a rare autosomal\u2010dominant disease, has gained attention in recent years owing to treatment improvements. However, epidemiological real\u2010world mega database of nationwide natural history and survival rates, especially with the specific mutation of Ala97Ser, are limited.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Taiwan National Health Insurance Research Database contains data from over 23 million individuals; Among them, 175 ATTRv amyloidosis patients validated by rare disease registry were enrolled. Multivariable Cox proportional hazard analyses were applied to investigate the association between baseline characteristics and all\u2010cause mortality.<\/jats:p><\/jats:sec><jats:sec><jats:title>Findings<\/jats:title><jats:p>From 2008 to 2020, the annual incidence and prevalence rates of specific mutations (Ala97Ser) leading to ATTRv amyloidosis with polyneuropathy were 0.04\u20131.14 and 0.04\u20134.79 per million in Taiwan, respectively. In Taiwan, these patients exhibited male predominance with a mean age at validation of 62.75\u2009years. At the 5th year after validation, patients exhibited a survival rate of approximately 50%, with higher mortality in male patients (hazard ratio [HR]: 2.22, 95% confidence interval [CI]: 1.15\u20134.31) and patients older at validation (HR: 1.10, 95% CI: 1.06\u20131.15). The two most common departments in outpatient were neurology and family medicine, and neurology and cardiology in inpatient. The three most common causes of death registered were unspecified amyloidosis (30.6%), organ\u2010limited amyloidosis (20.9%), and neuropathic heredofamilial amyloidosis (9.7%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>The annual prevalence rate of specific mutation (Ala97Ser)\u2010dominant ATTRv amyloidosis with polyneuropathy in Taiwan is comparable to the mid\u2010 to high\u2010prevalence country level of the research by Schmidt et\u00a0al. The extraordinarily high mortality, especially among patients older at validation, may reflect the inadequate awareness and the necessity of early intervention with novel disease\u2010modifying regimens.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.51765","type":"journal-article","created":{"date-parts":[[2023,4,12]],"date-time":"2023-04-12T12:44:51Z","timestamp":1681303491000},"page":"779-786","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Natural history and survival rate of familial amyloidosis with polyneuropathy: A nationwide databank"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-8720-8494","authenticated-orcid":false,"given":"Wei\u2010Hsiang","family":"Tseng","sequence":"first","affiliation":[{"name":"Department of Family Medicine National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University  Tainan Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Han\u2010Wei","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Neurology National Cheng Kung University Hospital, Medical College, National Cheng Kung University  Tainan Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5050-3779","authenticated-orcid":false,"given":"Chia\u2010Chun","family":"Li","sequence":"additional","affiliation":[{"name":"Institute of Allied Health Sciences, College of Medicine, National Cheng Kung University  Tainan Taiwan"},{"name":"Department of Family Medicine College of Medicine, National Cheng Kung University  Tainan Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chin\u2010Sung","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Family Medicine National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University  Tainan Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8322-6336","authenticated-orcid":false,"given":"Wing P.","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Radiology, Wan Fang Hospital Taipei Medical University  Taipei Taiwan"},{"name":"Department of Radiology School of Medicine, College of Medicine, Taipei Medical University  Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kong\u2010Pin","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Neurology Taipei Veterans General Hospital  Taipei Taiwan"},{"name":"Department of Neurology National Yang\u2010Ming University School of Medicine  Taipei Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0504-2053","authenticated-orcid":false,"given":"Chih\u2010Hsing","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Family Medicine National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University  Tainan Taiwan"},{"name":"Department of Family Medicine College of Medicine, National Cheng Kung University  Tainan Taiwan"},{"name":"Institute of Gerontology, Medical College, National Cheng Kung University  Tainan Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,4,12]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.14797\/mdcvj.1066"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26034"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/13506129.2022.2052838"},{"issue":"2","key":"e_1_2_9_5_1","first-page":"150","article-title":"Familial amyloid polyneuropathy","volume":"56","author":"\u00c7akar A","year":"2019","journal-title":"Noro Psikiyatr 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