Mediterranean fever gene-associated enterocolitis in an elderly Japanese woman

Clin J Gastroenterol. 2021 Dec;14(6):1661-1666. doi: 10.1007/s12328-021-01497-1. Epub 2021 Aug 24.

Abstract

An 86-year-old woman was admitted to our hospital with anemia. She had never experienced symptoms of serositis. Colonoscopy revealed colitis with erosions and a friable mucosa. First, she was diagnosed with unclassified inflammatory bowel disease (IBD-U). We suspected familial Mediterranean fever as a differential diagnosis of IBD-U, and MEFV gene analysis showed heterozygosity for Exon2 R202Q. The patient was treated with colchicine 0.5 mg. After 4 months, a follow-up colonoscopy showed remarkable improvement of the mucosal inflammation throughout the entire colon. MEFV gene-associated enterocolitis responding to colchicine may be observed in patients with IBD-U and elucidating the role of MEFV gene mutations in intestinal inflammation is a future challenge.

Keywords: Colchicine; Familial Mediterranean fever; Inflammatory bowel disease; Ulcerative colitis.

Publication types

  • Case Reports

MeSH terms

  • Aged, 80 and over
  • Colchicine / therapeutic use
  • Enterocolitis*
  • Familial Mediterranean Fever* / complications
  • Familial Mediterranean Fever* / diagnosis
  • Familial Mediterranean Fever* / drug therapy
  • Female
  • Humans
  • Japan
  • Mutation
  • Pyrin* / genetics

Substances

  • MEFV protein, human
  • Pyrin
  • Colchicine