Familial Mediterranean Fever with Segmental Entero-colitis, Report of a Case Takahide Tanaka 1 , Koichi Kurahara 1 , Hiroki Yaita 1 , Yumi Oshiro 2 , Takashi Yao 3 , Takashi Hirata 1 , Yoshiyuki Kayashima 1 , Masashi Kameda 1 , Yuichiro Yoshida 1 , Shinji Morisaki 1 1Division of Gastroenterology, Matsuyama Red-cross Hospital, Matsuyama, Japan 2Department of Pathology, Matsuyama Red-cross Hospital, Matsuyama, Japan 3Department of Human Pathology, Juntendo University Graduate School of Medicine, Tokyo Keyword: 家族性地中海熱 , 家族性地中海熱関連腸炎 , MEFV遺伝子変異 , 大腸炎 , 腹膜炎 , 終末回腸炎 pp.1300-1311
Published Date 2019/8/25
DOI https://doi.org/10.11477/mf.1403201825
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 The patient was a 75-year-old woman who had been suffering from pyrexia and lower right quadrant pain, which had repeatedly occurred every few months and had then spontaneously improved after several days since approximately four years before her initial visit. Presently, the patient developed pyrexia and lower right quadrant pain and thus consulted our department in 201X. Results of a colonoscopy examination revealed diffuse, circumferential, and segmental redness with coarse mucosa extending continuously from the proximal ascending colon to the cecum and terminal ileum ; meanwhile, in the same area, multiple well-circumscribed small ulcers and ileocecal valve incompetence were observed. Biopsy of the coarse red mucosa revealed slight neutrophilic infiltration and non-specific chronic inflammatory cell infiltration. Furthermore, radiographic contrast revealed sclerosis features, suggesting peritonitis at the mesenteric side of the proximal ascending colon. Several days later, symptoms of pyrexia and abdominal pain spontaneously disappeared and enteritis tended to improve on colonoscopy. Upon suspicion of familial Mediterranean fever, genetic screening was performed, which revealed a homozygous mutation in exon 2(G304)on MEFV. Based on exclusion diagnosis of other diseases and responsiveness to colchicine, a diagnosis of familial Mediterranean fever-related enteritis(MEFV-related enteritis)was made. Thereafter, continuous colchicine therapy improved the intestinal lesions, and the patient progressed without flare-up of pyrexia and abdominal pain. Considering the condition of enteritis in the present case, we observed interesting clinical findings and histopathological findings, such as peritonitis consistent with the site affected by enteritis on barium enema. Furthermore, histopathological analysis of specific-site biopsy suggested possible extensive latent enteritis beyond the area observed with colonoscopy, indicating segmental enteritis.

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