{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T02:09:25Z","timestamp":1777860565799,"version":"3.51.4"},"reference-count":26,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2023,3,6]],"date-time":"2023-03-06T00:00:00Z","timestamp":1678060800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,6,19]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>Beh\u00e7et\u2019s-like disease, which incompletely fulfils the criteria of Beh\u00e7et\u2019s disease, is often associated with trisomy 8\u2013positive myelodysplastic syndrome (MDS). We report a case of an 82-year-old man with these conditions carrying the E148Q variant of MEFV gene who presented with periodic fever. The patient presented with joint pain, muscle pain, and episodes of periodic fever every 2 weeks for the past 3 months. On admission, painful erythema and fever were observed. Colonoscopy revealed erosion in the caecum and ascending colon. The patient had bicytopenia, and a bone marrow biopsy showed findings compatible with trisomy 8\u2013positive unclassifiable MDS. Because the patient incompletely fulfilled the criteria for Beh\u00e7et\u2019s disease, he was diagnosed with Beh\u00e7et\u2019s-like disease associated with trisomy 8\u2013positive MDS. Positron emission tomography\u2013computed tomography performed during the fever revealed multiple muscle lesions consistent with the sites of pain. To examine the cause of the periodic fever attacks, MEFV gene was analysed, and the results revealed an E148Q variant. Steroids were ineffective against periodic fever attacks. A daily dose of 0.5\u2009mg colchicine was prescribed, but the effect was minimal, probably, because of the insufficient dose due to renal dysfunction. Based on the diagnosis of atypical familial Mediterranean fever, canakinumab was added, which partially mitigated the periodic fever. This case suggests the importance of ruling out MDS when physicians see an elderly patient who present with Beh\u00e7et\u2019s-like disease. Although the significance of the E148Q variant in the pathogenesis of periodic fever remains controversial, it may act as a disease modifier in accordance with trisomy 8\u2013positive MDS.<\/jats:p>","DOI":"10.1093\/mrcr\/rxad015","type":"journal-article","created":{"date-parts":[[2023,3,7]],"date-time":"2023-03-07T19:16:50Z","timestamp":1678216610000},"page":"470-474","source":"Crossref","is-referenced-by-count":5,"title":["A case of Beh\u00e7et\u2019s-like disease associated with trisomy 8\u2013positive myelodysplastic syndrome carrying <i>MEFV<\/i> E148Q variant presented with periodic fever"],"prefix":"10.1093","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2688-0782","authenticated-orcid":false,"given":"Yukiko","family":"Ishikawa","sequence":"first","affiliation":[{"name":"Division of General Internal Medicine, Jichi Medical University Hospital , Tochigi, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryo","family":"Sasaki","sequence":"additional","affiliation":[{"name":"Division of General Internal Medicine, Jichi Medical University Hospital , Tochigi, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Ishiwata","sequence":"additional","affiliation":[{"name":"Division of General Internal Medicine, Jichi Medical University Hospital , Tochigi, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuji","family":"Hatakeyama","sequence":"additional","affiliation":[{"name":"Division of General Internal Medicine, Jichi Medical University Hospital , Tochigi, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masami","family":"Matsumura","sequence":"additional","affiliation":[{"name":"Division of General Internal Medicine, Jichi Medical University Hospital , Tochigi, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeo","family":"Sato","sequence":"additional","affiliation":[{"name":"Division of Rheumatology and Clinical Immunology, Jichi Medical University , Tochigi, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,3,6]]},"reference":[{"key":"2023061920014536300_R1","doi-asserted-by":"crossref","first-page":"2015","DOI":"10.1007\/s00277-018-3472-9","article-title":"Autoimmune manifestations associated with myelodysplastic syndromes","volume":"97","author":"Grignano","year":"2018","journal-title":"Ann Hematol"},{"key":"2023061920014536300_R2","first-page":"1","article-title":"Certain autoimmune manifestations are associated with distinctive karyotypes and outcomes in patients with myelodysplastic syndrome: a retrospective cohort study","volume":"95","author":"Lee","year":"2016","journal-title":"Medicine (Baltimore)"},{"key":"2023061920014536300_R3","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/j.beha.2013.09.003","article-title":"Myelodysplastic syndromes (MDS) and autoimmune disorders (AD): cause or consequence?","volume":"26","author":"Braun","year":"2013","journal-title":"Best Pract Res Clin Haematol"},{"key":"2023061920014536300_R4","first-page":"1","article-title":"The acquisition of trisomy 8 associated with Beh\u00e7et\u2019s-like disease in myelodysplastic syndrome","volume":"13","author":"Oka","year":"2020","journal-title":"Leuk Res Rep"},{"key":"2023061920014536300_R5","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2018\/4902941","article-title":"High incidence of gastrointestinal ulceration and cytogenetic aberration of trisomy 8 as typical features of Beh\u00e7et\u2019s disease associated with myelodysplastic syndrome: a series of 16 consecutive Chinese patients from the Shanghai Beh\u00e7et\u2019s disease database and comparison with the literature","volume":"2018","author":"Shen","year":"2018","journal-title":"Biomed Res Int"},{"key":"2023061920014536300_R6","first-page":"13","article-title":"Familial Mediterranean fever: current perspectives","volume":"9","author":"Sonmez","year":"2016","journal-title":"J Inflamm Res"},{"key":"2023061920014536300_R7","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1097\/MD.0000000000000029","article-title":"Familial Mediterranean fever: genotype-phenotype correlations in Japanese patients","volume":"93","author":"Migita","year":"2014","journal-title":"Medicine (Baltimore)"},{"key":"2023061920014536300_R8","first-page":"1","article-title":"Association between MEFV mutations M694V and M680I and Beh\u00e7et\u2019s disease: a meta-analysis","volume":"10","author":"Wu","year":"2015","journal-title":"PLoS One"},{"key":"2023061920014536300_R9","doi-asserted-by":"crossref","first-page":"413","DOI":"10.3109\/s10165-010-0291-9","article-title":"Periodic fever and erythema nodosum associated with MDS with trisomy 8: report of two cases and review of the literature","volume":"20","author":"Fujimura","year":"2010","journal-title":"Mod Rheumatol"},{"key":"2023061920014536300_R10","doi-asserted-by":"crossref","first-page":"1782","DOI":"10.1080\/10428194.2018.1542152","article-title":"Gastrointestinal Beh\u00e7et\u2019s-like disease with myelodysplastic neoplasms with trisomy 8: a French case series and literature review","volume":"60","author":"Wesner","year":"2019","journal-title":"Leuk Lymphoma"},{"key":"2023061920014536300_R11","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1016\/S0049-0172(00)80015-3","article-title":"Beh\u00e7et\u2019s disease in familial Mediterranean fever: characterization of the association between the two diseases","volume":"29","author":"Schwartz","year":"2000","journal-title":"Semin Arthritis Rheum"},{"key":"2023061920014536300_R12","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1080\/03009740801998788","article-title":"Molecular analysis of MEFV gene mutations among Palestinian patients with Beh\u00e7et\u2019s disease","volume":"37","author":"Ayesh","year":"2008","journal-title":"Scand J Rheumatol"},{"key":"2023061920014536300_R13","first-page":"89","article-title":"Pseudodominance of autoinflammatory disease in a single Turkish family explained by co-inheritance of haploinsufficiency of A20 and familial Mediterranean fever","volume":"37 Suppl 121","author":"Horita","year":"2019","journal-title":"Clin Exp Rheumatol"},{"key":"2023061920014536300_R14","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.semarthrit.2022.152039","article-title":"Clinical features and prognosis of patients with gastrointestinal Beh\u00e7et\u2019s disease-like syndrome and myelodysplastic syndrome with and without trisomy 8","volume":"55","author":"Liu","year":"2022","journal-title":"Semin Arthritis Rheum"},{"key":"2023061920014536300_R15","first-page":"S115","article-title":"The association of Beh\u00e7et\u2019s disease with myelodysplastic syndrome in Japan: a review of the literature","volume":"24","author":"Tada","year":"2006","journal-title":"Clin Exp Rheumatol"},{"key":"2023061920014536300_R16","doi-asserted-by":"crossref","first-page":"350","DOI":"10.3109\/s10165-003-0245-6","article-title":"Beh\u00e7et\u2019s disease associated with myelodysplastic syndrome with elevated levels of inflammatory cytokines","volume":"13","author":"Hasegawa","year":"2003","journal-title":"Mod Rheumatol"},{"key":"2023061920014536300_R17","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13075-016-1071-5","article-title":"Familial Mediterranean fever is no longer a rare disease in Japan","volume":"18","author":"Migita","year":"2016","journal-title":"Arthritis Res Ther"},{"key":"2023061920014536300_R18","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13075-014-0439-7","article-title":"Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations","volume":"16","author":"Kishida","year":"2014","journal-title":"Arthritis Res Ther"},{"key":"2023061920014536300_R19","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.1080\/14397595.2021.1880534","article-title":"MEFV E148Q variant is more associated with familial Mediterranean fever when combined with other non-exon 10 MEFV variants in Japanese patients with recurrent fever","volume":"31","author":"Fujimoto","year":"2021","journal-title":"Mod Rheumatol"},{"key":"2023061920014536300_R20","doi-asserted-by":"crossref","first-page":"1661","DOI":"10.1007\/s12328-021-01497-1","article-title":"Mediterranean fever gene-associated enterocolitis in an elderly Japanese woman","volume":"14","author":"Shibata","year":"2021","journal-title":"Clin J Gastroenterol"},{"key":"2023061920014536300_R21","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.2169\/internalmedicine.54.3690","article-title":"Usefulness of small intestinal endoscopy in a case of adult-onset familial Mediterranean fever associated with jejunoileitis","volume":"54","author":"Kitade","year":"2015","journal-title":"Intern Med"},{"key":"2023061920014536300_R22","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1093\/rheumatology\/kev294","article-title":"Systemic inflammatory and autoimmune manifestations associated with myelodysplastic syndromes and chronic myelomonocytic leukaemia: a French multicentre retrospective study","volume":"55","author":"Mekinian","year":"2016","journal-title":"Rheumatology (Oxford)"},{"key":"2023061920014536300_R23","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1111\/bjh.12694","article-title":"Guidelines for the diagnosis and management of adult myelodysplastic syndromes","volume":"164","author":"Killick","year":"2014","journal-title":"Br J Haematol"},{"key":"2023061920014536300_R24","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1007\/s00277-020-03951-5","article-title":"How to treat myelodysplastic syndrome with clinical features resembling Beh\u00e7et syndrome: a case-based systematic review","volume":"99","author":"Yilmaz","year":"2020","journal-title":"Ann Hematol"},{"key":"2023061920014536300_R25","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1007\/s12185-013-1316-x","article-title":"Successful treatment by azacitidine therapy of intestinal Beh\u00e7et\u2019s disease associated with myelodysplastic syndrome","volume":"97","author":"Tanaka","year":"2013","journal-title":"Int J Hematol"},{"key":"2023061920014536300_R26","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1080\/25785826.2019.1687251","article-title":"Long-term maintenance of the mucosal healing induced by azacitidine therapy in a patient with intestinal Beh\u00e7et\u2019s-like disease accompanied with myelodysplastic syndrome involving trisomy 8","volume":"42","author":"Tanaka","year":"2019","journal-title":"Immunol Med"}],"container-title":["Modern Rheumatology Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/mrcr\/advance-article-pdf\/doi\/10.1093\/mrcr\/rxad015\/49604634\/rxad015.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/mrcr\/article-pdf\/7\/2\/470\/50646568\/rxad015.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/mrcr\/article-pdf\/7\/2\/470\/50646568\/rxad015.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,6,19]],"date-time":"2023-06-19T20:08:16Z","timestamp":1687205296000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/mrcr\/article\/7\/2\/470\/7070601"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,6]]},"references-count":26,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2023,3,6]]},"published-print":{"date-parts":[[2023,6,19]]}},"URL":"https:\/\/doi.org\/10.1093\/mrcr\/rxad015","relation":{},"ISSN":["2472-5625"],"issn-type":[{"value":"2472-5625","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,7,1]]},"published":{"date-parts":[[2023,3,6]]}}}