| Theme | Atypical cases of inflammatory bowel disease diagnosed with difficulty | |
|---|---|---|
| Title | Mediterranean fever gene related to colitis : distinguishing ulcerative colitis from Crohn's disease | |
| Publish Date | 2016/11 | |
| Author | Hiroshi Nakase | Department of Gastroenterology and Hepatology, Sapporo Medical University, School of Medicine |
| Author | Tomoya Iida | Department of Gastroenterology and Hepatology, Sapporo Medical University, School of Medicine |
| Author | Kei Onodera | Department of Gastroenterology and Hepatology, Sapporo Medical University, School of Medicine |
| [ Summary ] | Abnormalities in the immune regulating system are strongly related to the onset and development of inflammatory bowel disease (IBD). The inflammasome is a multiprotein oligomer consisting of caspase 1, PYCARD, NALP and occasionally caspase 5, which promotes the maturation of interleukin 1β (IL-1β) and IL-18. Activation of inflammasome by exogenous and endogenous stimuli is associated with various diseases such as familial Mediterranean fever. We report on a case involving a forty two years old woman diagnosed with colitis related to familial Mediterranean fever (MEFV) gene mutation. She was refractory to conventional IBD treatment, but responded to colchicine administration. Based on our experience, we describe the importance of examining MEFV gene patients with differential diagnoses of IBD. | |