Hoshi Ayano, Shimodate Yuichi, Gotoda Tatsuhiro, Takezawa Rio, Nishimura Naoyuki, Mouri Hirokazu, Matsueda Kazuhiro, Mizuno Motowo, Matsumoto Takayuki
Department of Gastroenterology and Hepatology Kurashiki Central Hospital Okayama Japan.
Department of Internal Medicine Division of Gastroenterology and Hepatology Iwate Medical University School of Medicine Iwate Japan.
DEN Open. 2024 Sep 18;5(1):e70013. doi: 10.1002/deo2.70013. eCollection 2025 Apr.
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.
一名24岁女性因关节疼痛、发热、腹痛和腹泻被转诊至我院。结肠镜检查显示整个结肠有纵向溃疡，呈鹅卵石样外观，提示克罗恩病。然而，使用5-氨基水杨酸、硫唑嘌呤和英夫利昔单抗治疗未能实现临床缓解。5个月后进行的结肠镜检查显示弥漫性分布的颗粒状黏膜，无可见血管，符合活动性溃疡性结肠炎。基于结肠病变的这些系列变化，我们对该患者进行了基因突变检测，在第2外显子中发现了E148Q和L110P变异。给予秋水仙碱后实现了完全临床缓解。我们的经验表明，结肠炎症特征的剧烈变化可能是诊断与家族性地中海热相关的小肠结肠炎的线索。
