Evaluation of the Clinical Effects and Frequency of Gene Mutation in Patients with Inflammatory Bowel Disease.

BACKGROUND

The clinical and pathological features of inflammatory bowel disease (IBD) and Familial Mediterranean Fever (FMF) are similar.

OBJECTIVE

Here, the frequency of Mediterranean Fever (MEFV) gene mutation and its effect on the outcome of IBD were evaluated.

METHODS

DNA sequence analysis detected the variants on the MEFV gene in patients with IBD. The relationship between mutations and the need for steroids, immunomodulators, biologics, and surgery was assessed.

RESULTS

We evaluated 100 patients with IBD (55 with ulcerative colitis (UC) and 45 with Crohn's disease (CD)) and 60 healthy individuals as controls. The frequency of gene mutation was 26.7% ( = 12) and 14.5% ( = 8) for UC and CD, respectively. No relationship was found between gene mutation and the need for steroids, immunomodulators, and biologics ( = 0.446; = 0.708; > 0.999, resp.); however, in UC, the need for surgery in those with mutation ( = 0.018) and E148Q mutation alone was significant ( = 0.037).

CONCLUSION

The rate of gene mutations was high in patients with UC who required surgery. These patients have frequent and severe attacks, indicating that the mutations are related to disease severity. mutation as a modifier factor of IBD should be considered.