{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T08:26:39Z","timestamp":1781598399740,"version":"3.54.5"},"reference-count":31,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2023,8,12]],"date-time":"2023-08-12T00:00:00Z","timestamp":1691798400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,7,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:sec>\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>We investigated differential diagnoses that should be noted with familial Mediterranean fever (FMF) and useful variables for differentiation in a large Japanese cohort.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Patients aged \u226513\u2009years who were clinically suspected of having FMF by Livneh criteria were studied 1\u2009year after MEFV genetic testing. Patients ultimately diagnosed with other diseases were studied, and the association among each disease, patient characteristics, and clinical variables were analysed using multiple correspondence analysis.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>In total, 504 patients were included in this study; 34 (6.7%) were diagnosed with a disease other than FMF. The most common diagnosis was Beh\u00e7et\u2019s disease, followed by periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, inflammatory bowel disease, myelodysplastic syndromes (MDS), and infectious diseases. Although none of the non-FMF patients had exon 10 variants, some responded to colchicine treatment. Multiple correspondence analysis suggested that atypical symptoms such as stomatitis were associated with Beh\u00e7et\u2019s disease and PFAPA syndrome, whereas characteristic situations such as disease onset \u226540\u2009years were associated with MDS and infectious diseases.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Careful follow-ups and reanalysis of the diagnosis should be performed for patients with atypical findings and no exon 10 variants, even if their symptoms meet the clinical criteria for FMF.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/mr\/road084","type":"journal-article","created":{"date-parts":[[2023,8,12]],"date-time":"2023-08-12T14:23:40Z","timestamp":1691850220000},"page":"784-790","source":"Crossref","is-referenced-by-count":4,"title":["Variables for\u00a0differential diagnosis of\u00a0familial Mediterranean fever: Multiple correspondence analysis of\u00a0a large Japanese cohort"],"prefix":"10.1093","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8309-7984","authenticated-orcid":false,"given":"Dai","family":"Kishida","sequence":"first","affiliation":[{"name":"Department of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine , Matsumoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akinori","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine , Matsumoto, Japan"},{"name":"Department of Clinical Research, National Hospital Organization Matsumoto Medical Center , Matsumoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahide","family":"Yazaki","sequence":"additional","affiliation":[{"name":"Institute for Biomedical Sciences, Shinshu University , Matsumoto, Japan"},{"name":"Department of Clinical Laboratory Sciences, Shinshu University School of Health Sciences , Matsumoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayako","family":"Tsuchiya-Suzuki","sequence":"additional","affiliation":[{"name":"Department of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine , Matsumoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takanori","family":"Ichikawa","sequence":"additional","affiliation":[{"name":"Department of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine , Matsumoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuhiro","family":"Shimojima","sequence":"additional","affiliation":[{"name":"Department of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine , Matsumoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiki","family":"Sekijima","sequence":"additional","affiliation":[{"name":"Department of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine , Matsumoto, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,8,12]]},"reference":[{"key":"2024070612132192400_R1","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1002\/art.24458","article-title":"Familial Mediterranean fever in\u00a0the world","volume":"61","author":"Ben-Chetrit","year":"2009","journal-title":"Arthritis Rheum"},{"key":"2024070612132192400_R2","doi-asserted-by":"crossref","DOI":"10.1186\/s13075-014-0439-7","article-title":"Genotype-phenotype correlation in\u00a0Japanese patients with familial Mediterranean fever: differences in\u00a0genotype and\u00a0clinical features between Japanese and\u00a0Mediterranean populations","volume":"16","author":"Kishida","year":"2014","journal-title":"Arthritis Res Ther"},{"key":"2024070612132192400_R3","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1136\/annrheumdis-2014-206844","article-title":"Evidence-based recommendations for\u00a0genetic diagnosis of\u00a0familial Mediterranean fever","volume":"74","author":"Giancane","year":"2015","journal-title":"Ann Rheum Dis"},{"key":"2024070612132192400_R4","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/0002-9343(67)90167-2","article-title":"Familial Mediterranean fever. 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