{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T09:07:33Z","timestamp":1784020053565,"version":"3.55.0"},"reference-count":10,"publisher":"SMC Media","issue":"7","license":[{"start":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T00:00:00Z","timestamp":1783555200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>Introduction:\u00a0Protracted febrile myalgia syndrome is a rare vasculitic manifestation of familial Mediterranean fever that presents as the initial familial Mediterranean fever manifestation in one-third of cases. While familial Mediterranean fever is classically autosomal recessive and associated with Mediterranean ancestry, the p.Met694del variant demonstrates autosomal dominant inheritance with a Northern European founder effect. MEFV-related enterocolitis can produce histologic features indistinguishable from inflammatory bowel disease. Case description: A 24-year-old European American man with no Mediterranean, Middle Eastern or Armenian ancestry, with biopsy-confirmed ulcerative colitis on upadacitinib, presented with six weeks of high-grade fevers, incapacitating myalgias, a 30-pound weight loss and pericardial effusion. Faecal calprotectin was markedly elevated (&gt;8,000 micrograms\/g) without gastrointestinal symptoms. Inflammatory markers were noticeably elevated with normal creatine kinase; extensive infectious and malignancy workup was negative. Bone marrow biopsy demonstrated focal haemophagocytosis without malignancy. Dramatic improvement occurred within 24\u201348 hours of corticosteroid initiation. Genetic testing revealed heterozygous p.Met694del, confirming autosomal dominant familial Mediterranean fever. At six-month follow-up on colchicine monotherapy without inflammatory bowel disease-directed therapy, inflammatory markers, faecal calprotectin and pericardial effusion had completely normalised, fulfilling Tel Hashomer criteria. Conclusion:\u00a0This case highlights protracted febrile myalgia syndrome as an under-recognised initial presentation of autosomal dominant familial Mediterranean fever in non-Mediterranean populations. Colchicine-responsive normalisation of faecal calprotectin raises the possibility that MEFV-mediated enterocolitis contributed to intestinal inflammation initially attributed to ulcerative colitis. Early recognition enables amyloidosis prevention and essential genetic counselling for first-degree relatives.<\/jats:p>","DOI":"10.12890\/2026_007090","type":"journal-article","created":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T13:15:31Z","timestamp":1783602931000},"source":"Crossref","is-referenced-by-count":0,"title":["Protracted febrile myalgia syndrome as initial presentation of familial mediterranean fever in a patient of Northern European extraction thought to have ulcerative colitis"],"prefix":"10.12890","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-5573-7907","authenticated-orcid":false,"given":"Stephanie","family":"Ammari","sequence":"first","affiliation":[{"name":"HCA Houston Healthcare Clear Lake \/ University of Houston College of Medicine, Webster, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Stein","sequence":"first","affiliation":[{"name":"HCA Houston Healthcare Clear Lake \/ University of Houston College of Medicine, Webster, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nawras","family":"Ibrahim","sequence":"first","affiliation":[{"name":"HCA Houston Healthcare Clear Lake \/ University of Houston College of Medicine, Webster, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10397","published-online":{"date-parts":[[2026,7,9]]},"reference":[{"key":"10.12890\/2026_007090_ref1","doi-asserted-by":"crossref","unstructured":"Hern\u00e1ndez-Rodr\u00edguez J, Mestre-Trabal L, G\u00f3mez-Caverzaschi V, Ruiz-Ortiz E, Espinosa G, Prieto-Gonz\u00e1lez S, et al. Characterizing protracted febrile myalgia: fasciitis and vasculitis of the fascia and muscle as novel histopathological features. J Clin Med 2024;13:7630. doi: 10.3390\/jcm13247630","DOI":"10.3390\/jcm13247630"},{"key":"10.12890\/2026_007090_ref2","doi-asserted-by":"crossref","unstructured":"\u00d6zt\u00fcrk K, \u00c7akan M. Protracted febrile myalgia syndrome as the first manifestation of familial Mediterranean fever in children: case-based review. Rheumatol Int 2021;41:213\u2013218. doi: 10.1007\/s00296-020-04696-0","DOI":"10.1007\/s00296-020-04696-0"},{"key":"10.12890\/2026_007090_ref3","unstructured":"Kaplan E, Mukamel M, Barash J, Brik R, Padeh S, Berkun Y, et al. Protracted febrile myalgia in children and young adults with familial Mediterranean fever: analysis of 15 patients and suggested criteria for working diagnosis. Clin Exp Rheumatol 2007;25:S114\u2013S117"},{"key":"10.12890\/2026_007090_ref4","doi-asserted-by":"crossref","unstructured":"Rowczenio DM, Iancu DS, Trojer H, Gilbertson JA, Gillmore JD, Wechalekar AD, et al. Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue \u2013 a case series and genetic exploration. Rheumatology (Oxford) 2017;56:209\u2013213. doi: 10.1093\/rheumatology\/kew058","DOI":"10.1093\/rheumatology\/kew058"},{"key":"10.12890\/2026_007090_ref5","doi-asserted-by":"crossref","unstructured":"Kori M, Buchuk R, Goldzweig O, Weisband YL, Tal N, Ben-Tov A, et al. Familial Mediterranean fever in patients with inflammatory bowel diseases: a nationwide study from the epi-IIRN. Rheumatology (Oxford) 2025;64:1347\u20131354. doi: 10.1093\/rheumatology\/keae303","DOI":"10.1093\/rheumatology\/keae303"},{"key":"10.12890\/2026_007090_ref6","doi-asserted-by":"crossref","unstructured":"Akyuz F, Besisik F, Ustek D, Ekmek\u00e7i C, Uyar A, Pinarbasi B, et al. Association of the MEFV gene variations with inflammatory bowel disease in Turkey. J Clin Gastroenterol 2013;47:e23\u2013e27. doi: 10.1097\/MCG.0b013e318257992","DOI":"10.1097\/MCG.0b013e3182597992"},{"key":"10.12890\/2026_007090_ref7","doi-asserted-by":"crossref","unstructured":"Saito D, Hibi N, Ozaki R, Kikuchi O, Sato T, Tokunaga S, et al. MEFV gene-related enterocolitis account for some cases diagnosed as inflammatory bowel disease unclassified. Digestion 2020;101:785\u2013793. doi: 10.1159\/000502640","DOI":"10.1159\/000502640"},{"key":"10.12890\/2026_007090_ref8","doi-asserted-by":"crossref","unstructured":"Nakase H, Wagatsuma K, Kobayashi T, Matsumoto T, Esaki M, Watanabe K, et al. MEFV-IBDU Group. Involvement of Mediterranean fever gene mutations in colchicine-responsive enterocolitis: a retrospective cohort study. EBioMedicine 2024;110:105454. doi: 10.1016\/j.ebiom.2024.105454","DOI":"10.2139\/ssrn.4819257"},{"key":"10.12890\/2026_007090_ref9","unstructured":"Yamaguchi M, Ohta A, Tsunematsu T, Kasukawa R, Mizushima Y, Kashiwagi H, et al. Preliminary criteria for classification of adult Still\u2019s disease. J Rheumatol 1992;19:424\u2013430"},{"key":"10.12890\/2026_007090_ref10","doi-asserted-by":"crossref","unstructured":"Ben-Chetrit E, Touitou I. The significance of carrying MEFV variants in symptomatic and asymptomatic individuals. Clin Genet 2024;106:217\u2013223. doi: 10.1111\/cge.14566","DOI":"10.1111\/cge.14566"}],"container-title":["European Journal of Case Reports in Internal Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/7090\/5822","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/7090\/5823","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/7090\/5822","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T08:40:01Z","timestamp":1784018401000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/view\/7090"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,9]]},"references-count":10,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.12890\/2026_007090","relation":{"has-manifestation":[{"id-type":"other","id":"1-170-7090-g5822","asserted-by":"subject"},{"id-type":"other","id":"1-170-7090-g5823","asserted-by":"subject"}],"is-part-of":[{"id-type":"other","id":"1-170","asserted-by":"subject"}]},"ISSN":["2284-2594"],"issn-type":[{"value":"2284-2594","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,9]]}}}