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Updated: Jan 19, 2026
Inflammatory Bowel Disease II: Crohn's Disease
MEFV Gene-Related Enterocolitis Account for Some Cases Diagnosed as Inflammatory Bowel Disease Unclassified
Daisuke Saito1, Noritaka Hibi1, Ryo Ozaki1
1Department of Gastroenterology and Hepatology, Kyorin University School of Medicine, Tokyo, Japan.
Background And Aims:
Familial mediterranean fever (FMF), an autoinflammatory disease, is characterized by periodic fever and serositis. An MEFV gene mutation has been identified as the cause of FMF. Recently, patients with MEFV gene mutations and chronic gastrointestinal mucosal inflammation mimicking inflammatory bowel disease (IBD) have been reported. In this retrospective study, we analyzed the clinical characteristics of patients with IBD unclassified (IBDU) with MEFV gene mutations.
Methods:
MEFV gene analysis was performed on 8 patients with IBDU among 710 patients with IBD who had been treated at Kyorin University Hospital from April 2016 to December 2018. Clinical manifestations, endoscopic findings, and serological markers were also analyzed.
Results:
The average of the 8 patients with IBDU (3 men, 5 women) was 32.7 ± 6.4 years (range 26-76 years). Their symptoms comprised diarrhea (n = 8, 100%), hematochezia (n = 3, 37.5%), abdominal pain (n = 3, 37.5%), high fever (n = 2, 16.5%), and other periodic symptoms (n = 2, 16.5%). MEFV gene mutation was confirmed in 4/8 of these patients. Colonoscopy showed various mucosal lesions, rectal sparing, right side dominant colitis, pseudopolyposis, and granular protrusions. Colchicine was administered to 5 of the 8 patients (4 with and 1 without MEFV mutation) who were resistant to conventional treatment for ulcerative colitis. Clinical and endoscopic improvement was observed in all of 5 patients treated with colchicine.
Conclusions:
Some patients diagnosed as having IBDU have enterocolitis related to MEFV gene mutation and respond to colchicine therapy.
Insights
Familial Mediterranean Fever (FMF) gene mutations can cause gastrointestinal inflammation mimicking inflammatory bowel disease (IBD). Some patients with IBD unclassified (IBDU) and MEFV mutations responded well to colchicine therapy.
Area of Science:
- Gastroenterology
- Genetics
- Immunology
Background:
- Familial Mediterranean Fever (FMF) is an autoinflammatory disease caused by MEFV gene mutations.
- Chronic gastrointestinal inflammation mimicking inflammatory bowel disease (IBD) has been observed in patients with MEFV mutations.
- IBD unclassified (IBDU) is a diagnosis for patients with IBD-like symptoms who do not fit clear criteria for Crohn's disease or ulcerative colitis.
Purpose of the Study:
- To analyze the clinical characteristics of patients diagnosed with IBDU who harbor MEFV gene mutations.
- To investigate the potential link between MEFV gene mutations and IBDU presentation.
- To evaluate the response to colchicine therapy in IBDU patients with MEFV mutations.
Main Methods:
- Retrospective analysis of 8 IBDU patients treated at Kyorin University Hospital (April 2016 - December 2018).
- MEFV gene analysis was performed on 710 IBD patients, identifying 8 with IBDU.
- Clinical manifestations, endoscopic findings, and serological markers were analyzed. Colchicine treatment response was assessed in select patients.
Main Results:
- Four out of 8 IBDU patients (50%) had confirmed MEFV gene mutations.
- Common symptoms included diarrhea (100%), abdominal pain (37.5%), and fever (16.5%).
- Endoscopic findings revealed features like rectal sparing and right-sided colitis. All 5 patients treated with colchicine showed clinical and endoscopic improvement.
Conclusions:
- MEFV gene mutations are present in a subset of patients diagnosed with IBDU.
- Enterocolitis associated with MEFV gene mutations can mimic IBD.
- Colchicine therapy is a potential treatment option for IBDU patients with MEFV mutations, particularly those resistant to conventional treatments.
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