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FD patients are frequently misdiagnosed, commonly for rheumatic diseases. Determining pathogenicity of a mutation depends of in silico predictions but mostly on available clinical information and interpretation may change in light of evolving knowledge. Similar signs and symptoms in carriers of<jats:italic>GLA<\/jats:italic>gene genetic variants of unknown significance or of benign variants may hamper diagnosis. This study reviews rheumatic and immune-mediated manifestations in a cohort of Brazilian FD patients with classic mutations and also in subjects with<jats:italic>GLA<\/jats:italic>gene A143T and R118C mutations. Misdiagnoses, time to correct diagnosis or determination of GLA gene status, time to treatment initiation and reasons for treatment prescription in A143T and R118C subjects are reviewed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Genotype confirmed classic FD patients (<jats:italic>n<\/jats:italic>\u2009=\u200937) and subjects with GLA gene mutations A143T and R118C (<jats:italic>n<\/jats:italic>\u2009=\u200919) were referred for assessment. Subjects with R118C and A143T mutations had been previously identified during screening procedures at hemodialysis units. All patients were interviewed and examined by a rheumatologist with previous knowledge of disease and\/or mutation status. A structured tool developed by the authors was used to cover all aspects of FD and of common rheumatic conditions. All available laboratory and imaging data were reviewed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Thirty-seven consecutive FD patients were interviewed \u2013 16 male \/ 21 female (mean age: 43.1\u2009years) and 19 consecutive subjects with<jats:italic>GLA<\/jats:italic>gene mutations R118C and A143T were evaluated \u2013 8 male \/ 11 female (mean age: 39.6\u2009years); 15 [R118C] \/ 4 [A143T]. Misdiagnosis in FD patients occurred in 11 males (68.8%) and 13 females (61.9%) of which 10 males and 9 females were previously diagnosed with one or more rheumatic conditions, most frequently rheumatic fever or \u201crheumatism\u201d (unspecified rheumatic disorder). Median time for diagnosis after symptom onset was 16\u2009years (range, 0\u201352\u2009years). Twenty-two patients were treated with enzyme replacement therapy (ERT) \u2013 13 male and 9 female. Median time to ERT initiation after FD diagnosis was 0.5\u2009years (range, 0\u201315\u2009years). Rheumatic manifestations occurred in 68.4% of R118C and A143T subjects. Two subjects had been prescribed ERT because of renal disease [R118C] and neuropsychiatric symptoms [A143T].<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Misdiagnoses occurred in 64.8% of FD patients, most frequently for rheumatic conditions. Median time for correct diagnosis was 16\u2009years. Rheumatic manifestations are also frequent in subjects with<jats:italic>GLA<\/jats:italic>gene R118C and A143T mutations. These results reinforce the need to raise awareness and increase knowledge about Fabry disease among physicians, notably rheumatologists, who definitely have a role in identifying patients and determining disease burden. Decision to start treatment should consider expert opinion and follow local guidelines.<\/jats:p><\/jats:sec>","DOI":"10.1186\/s42358-019-0111-7","type":"journal-article","created":{"date-parts":[[2020,1,6]],"date-time":"2020-01-06T19:03:05Z","timestamp":1578337385000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients"],"prefix":"10.1186","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8457-5132","authenticated-orcid":false,"given":"Nilton Salles","family":"Rosa Neto","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith Campos de Barros","family":"Bento","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa Maria Rodrigues","family":"Pereira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,1,6]]},"reference":[{"key":"111_CR1","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1016\/B978-0-444-62702-5.00017-2","volume":"132","author":"R Schiffmann","year":"2015","unstructured":"Schiffmann R. 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All patients read and signed informed consent. The procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation and with the Helsinki Declaration of 1975, as revised in 1983.","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":"NSRN declares having received speaker\u2019s and advisory board fees from Shire HGT, now Takeda Pharmaceuticals; JCBB declares that spouse received speaker\u2019s and advisory board fees from Shire HGT, now Takeda Pharmaceuticals; RMRP has nothing to disclose.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"7"}}