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We emphasize the need for a high level of suspicion in order to establish an early diagnosis of FAP in the absence of a family history, and provide prognostic and genetic counselling.<\/jats:p>","DOI":"10.12890\/2022_003118","type":"journal-article","created":{"date-parts":[[2022,1,18]],"date-time":"2022-01-18T03:58:13Z","timestamp":1642478293000},"source":"Crossref","is-referenced-by-count":0,"title":["Familial Amyloid Polyneuropathy Misdiagnosed as Systemic Sclerosis"],"prefix":"10.12890","volume":"9","author":[{"given":"Marcia","family":"Agostinho Pereira","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Medicina 2.3, Centro Hospitalar Universit\u00e1rio Lisboa Central, Lisbon, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madalena","family":"Monjardino Lob\u00e3o","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Medicina 2.3, Centro Hospitalar Universit\u00e1rio Lisboa Central, Lisbon, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Mesquita","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Medicina 2.3, Centro Hospitalar Universit\u00e1rio Lisboa Central, Lisbon, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel","family":"Martins","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Medicina 2.3, Centro Hospitalar Universit\u00e1rio Lisboa Central, Lisbon, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rita","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Medicina 2.3, Centro Hospitalar Universit\u00e1rio Lisboa Central, Lisbon, Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10397","published-online":{"date-parts":[[2022,1,18]]},"reference":[{"key":"10.12890\/2022_003118_ref1","doi-asserted-by":"crossref","unstructured":"<li>Andrade, C. A peculiar form of peripheral neuropathy. <em>Acta Psychiatr Neurol Scand<\/em> 1951;<strong>26<\/strong>(3\u20134):251\u2013257.","DOI":"10.1111\/j.1600-0447.1951.tb09673.x"},{"key":"10.12890\/2022_003118_ref2","doi-asserted-by":"crossref","unstructured":"<li>Adams D, Ando Y, Beir\u00e3o JM, Coelho T, Gertz MA, Gillmore JD, et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy.<em>J Neurol <\/em>2020;<strong>268<\/strong>:2109\u20132122.","DOI":"10.1007\/s00415-019-09688-0"},{"key":"10.12890\/2022_003118_ref3","doi-asserted-by":"crossref","unstructured":"<li>Johnson SR. New ACR EULAR guidelines for systemic sclerosis classification. Curr <em>Rheumatol Rep<\/em> 2015;<strong>17<\/strong>:1\u20138.","DOI":"10.1007\/s11926-015-0506-3"},{"key":"10.12890\/2022_003118_ref4","doi-asserted-by":"crossref","unstructured":"<li>Lanoue J, Wei N, Gorevic P, Phelps RG. Cutaneous manifestations of familial transthyretin amyloid polyneuropathy. <em>Am J Dermatopathol<\/em> 2016;<strong>38<\/strong>:719\u2013725.<\/li>","DOI":"10.1097\/DAD.0000000000000501"}],"container-title":["European Journal of Case Reports in Internal Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/3118\/2965","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/3118\/2966","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/3118\/2966","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,22]],"date-time":"2025-08-22T12:01:06Z","timestamp":1755864066000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/view\/3118"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,18]]},"references-count":4,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022]]}},"URL":"https:\/\/doi.org\/10.12890\/2022_003118","relation":{"has-manifestation":[{"id-type":"other","id":"1-81-3118-g2965","asserted-by":"subject"},{"id-type":"other","id":"1-81-3118-g2966","asserted-by":"subject"}],"is-part-of":[{"id-type":"other","id":"1-81","asserted-by":"subject"}]},"ISSN":["2284-2594"],"issn-type":[{"type":"electronic","value":"2284-2594"}],"subject":[],"published":{"date-parts":[[2022,1,18]]},"article-number":"11"}}