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The aim of the present work was to describe the clinical profile of asymptomatic carriers (AC) and\n                      <jats:italic>Coutinho<\/jats:italic>\n                      stage 1 ATTRv patients in Spain.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      National, multicentre, cross-sectional study that included 86 AC and 19 patients diagnosed in the previous 12\u00a0months to enrolment. Clinical and demographical data,\n                      <jats:italic>TTR<\/jats:italic>\n                      gene mutations, red flags anamnesis, neurological and cardiological assessments were collected.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The mean age of patients was 56.8\u00a0years at onset and 58.6\u00a0years at diagnosis; 53% of patients and 51% of AC were from non-endemic areas. Val50Met was the most frequent mutation in both groups. Neuropathy impairment score data (mean 17.7\u2009\u00b1\u200920.5) and small-fibre function in lower limbs assessed with SUDOSCAN revealed that patients were diagnosed at early stages of neurological impairment. Peripheral polyneuropathy (84.2%), autonomic neuropathy (73.7%), cardiac (63.2%) and gastrointestinal (47.4%) alterations were the most common symptoms in patients. Autonomic neuropathy, gastrointestinal impairment, carpal tunnel syndrome, cardiac and ocular alterations were potentially related to ATTRv in the AC group.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      The EMPATIa study provides a detailed description of AC and\n                      <jats:italic>Coutinho<\/jats:italic>\n                      stage 1 ATTRv patients across Spain, confirming the multisystemic clinical profile of the disease. This study reveals a diagnosis delay around 1.8\u00a0years, highlighting the importance of a profound disease awareness to reach a diagnose in earlier stages of neurological impairment.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-024-03304-9","type":"journal-article","created":{"date-parts":[[2024,9,6]],"date-time":"2024-09-06T05:02:28Z","timestamp":1725598948000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A description of variant transthyretin amyloidosis (ATTRv) stage 1 patients and asymptomatic carriers in Spain: the EMPATIa study"],"prefix":"10.1186","volume":"19","author":[{"given":"Luc\u00eda","family":"Gal\u00e1n D\u00e1vila","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Martinez Valle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Buades Rein\u00e9s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Gonzalez-Moreno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"In\u00e9s","family":"Losada L\u00f3pez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Sevilla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco","family":"Mu\u00f1oz Beamud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Eulalio","family":"B\u00e1rcena Llona","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Romero Acebal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Setaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Primiano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7218-449X","authenticated-orcid":false,"given":"Patricia","family":"Tarilonte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,9,6]]},"reference":[{"issue":"3","key":"3304_CR1","doi-asserted-by":"publisher","first-page":"785","DOI":"10.1007\/s10741-021-10080-2","volume":"27","author":"JN Nativi-Nicolau","year":"2022","unstructured":"Nativi-Nicolau JN, Karam C, Khella S, Maurer MS. 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TS has received fees as scientific advisor or participant in clinical studies from (in alphabetical order): Alnylam, Akcea and Pfizer. FMB has received fees as scientific advisor or participant in clinical studies from (in alphabetical order): Akcea, Alnylam, Pfizer and Sobi. JEBL has no conflict of interest to declare. MRA has received fees as scientific advisor or participant in clinical studies from (in alphabetical order): Alnylam and Pfizer. FS is a full-time employee of Pfizer SLU and holds stock and stock options in Pfizer Inc. DP is a full-time employee of Pfizer SLU. PT is a full-time employee of Pfizer SLU and holds stock and stock options in Pfizer Inc.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"323"}}