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Our study aimed to determine the prevalence (and the necessity of screening) of FD among patients with possible or definite MS.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>In this prospective monocentric observational study, we included consecutive patients enrolled between May 2017 and May 2019 after the first clinical event suggestive of MS. All patients underwent FD screening using dried blood spots in a stepwise manner combining genetic and enzyme testing. Patients were followed until May 2022.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>We included 160 patients (73.1% female, mean age 33.9\u00a0years). The 2017 revised McDonald\u2019s criteria for definite MS were fulfilled by 74 (46.3%) patients at the time of study recruitment and 89 (55.6%) patients after 3\u20135\u00a0years of follow-up. None of the patients had a pathogenic GLA variant, and four (2.5%) had a variant of unknown significance (p.A143T, p.S126G, 2\u2009\u00d7\u2009p.D313Y). In two of these patients, the intrathecal synthesis of oligoclonal bands was absent, and none had hyperproteinorachia or pleocytosis in cerebrospinal fluid. Detailed examination of FD organ manifestations revealed only discrete ocular and kidney involvement in two patients.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>The prevalence of FD in the population of suspected or definite MS patients does not appear to be high. Our results do not support routine FD screening in all patients with a possible diagnosis of MS, but there is an urgent need to search for red flags and include FD in the differential diagnosis of MS.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s10072-023-06962-y","type":"journal-article","created":{"date-parts":[[2023,7,22]],"date-time":"2023-07-22T09:01:38Z","timestamp":1690016498000},"page":"231-239","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Missed diagnosis of Fabry disease: should we screen patients with multiple sclerosis?"],"prefix":"10.1007","volume":"45","author":[{"given":"Petra","family":"Rekova","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Kovarova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomas","family":"Uher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbora","family":"Srpova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela","family":"Dostalova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ales","family":"Linhart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Vaneckova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2418-4847","authenticated-orcid":false,"given":"Dominika","family":"Stastna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,7,22]]},"reference":[{"key":"6962_CR1","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1016\/S1474-4422(17)30470-2","volume":"17","author":"AJ Thompson","year":"2018","unstructured":"Thompson AJ, Banwell BL, Barkhof F et al (2018) Diagnosis of multiple sclerosis: 2017 revisions of the McDonald criteria. 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All patients gave written informed consent to the study, including the genetic analyses.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"All patients gave written informed consent to the study, including the genetic analyses.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}},{"value":"PR\u202fwas a consultant for Takeda Pharmaceuticals. She received speaker honoraria from Takeda Pharmaceuticals and Sanofi-Genzyme, travel and accommodation support, and symposium reimbursement from Takeda\u202fPharmaceuticals. IK received financial support for conference travel from Novartis, Teva, Merck, and Roche. TU received financial support for conference travel from Biogen, Novartis, Sanofi, Roche, and Merck and speaker honoraria from Biogen, Novartis, and Roche, as well as support for research activities from Biogen and Sanofi. BS received compensation for travelling and conference fees from Novartis, Sanofi, Biogen, Roche, and Merck, as well as support for research activities from Biogen. AL received consultation and speaker honoraria from Takeda, Amicus, and Sanofi and holds a position on the Fabry registry board and the Amicus FollowME registry board. GD has no relevant conflicts of interest to declare. MV received compensation for travelling, speaker honoraria, and consultant fees from Biogen, Novartis, Roche, Merck, and Teva. DS received financial support for conference travel and\/or speaker honoraria from Novartis, Biogen, Merck, Teva, Janssen-Cilag, and Roche.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}}]}}