Colitis in a patient with familial Mediterranean fever: Is it Crohn’s disease or ulcerative colitis?

A 24-year-old woman was referred to our hospital with joint pain, fever, abdominal pain, and diarrhea. A colonoscopy revealed longitudinal ulcers with a cobblestone appearance throughout the entire colon, suggestive of Crohn's disease. However, treatment with 5-aminosalicylic acid, azathioprine, and infliximab failed to achieve clinical remission. A colonoscopy 5 months later revealed a diffusely spreading granular mucosa without visible vasculature, compatible with active ulcerative colitis. Based on these serial changes in colonic lesions, we tested the patient for gene mutations and found variants E148Q and L110P in exon 2. Administration of colchicine resulted in complete clinical remission. Our experience suggests that drastic changes in the features of colonic inflammation may be a clue to the diagnosis of enterocolitis associated with familial Mediterranean fever.
Hoshi Ayano, Shimodate Yuichi, Gotoda Tatsuhiro, Takezawa Rio, Nishimura Naoyuki, Mouri Hirokazu, Matsueda Kazuhiro, Mizuno Motowo, Matsumoto Takayuki
Apr 2025
DEN open
Crohn’s disease, colitis, familial Mediterranean fever, inflammatory bowel disease, ulcerative colitis
Takayuki Matsumoto is a responsible and executive JGES member for DEN Open. The other authors declare no conflict of interest.