Ayşegül CEBE TOK, Esra BAĞLAN, Gülseren ŞAHİN, Selen ŞİMŞEK PERVANE
The Journal of Pediatric Academy - 2026;7(3):109-116
Familial Mediterranean fever (FMF) and inflammatory bowel disease (IBD) share overlapping clinical and immunological features, and mutations in the MEFV gene, which cause FMF, have been proposed as potential genetic modifiers of IBD in Mediterranean populations. This retrospective study evaluated the prevalence and clinical correlates of MEFV mutations in 33 pediatric patients (aged 1-18 years) diagnosed with IBD at a tertiary referral centre between September 2022 and March 2025. Diagnoses included ulcerative colitis (51.5%), Crohn's disease (45.5%), and indeterminate colitis (3.0%). MEFV mutations were identified in 12 patients (36.4%). After excluding four carriers of low-penetrance variants or variants of uncertain significance, eight patients with high-pathogenicity (predominantly exon 10) MEFV mutations (Group 1) were compared with 21 MEFV-negative patients (Group 2). No significant differences were found between groups with respect to age, sex, diagnosis distribution, haematological or inflammatory parameters, disease activity scores, relapse rate, or steroid response kinetics (all p>0.05). Extraintestinal manifestations were numerically more frequent in Group 1 (50.0% vs. 23.8%, p=0.068), and suppurative complications (anal or intra-abdominal abscess) and anaphylaxis occurred only in this group; however, post-hoc power for this comparison was low (15.9%), and this finding should therefore be interpreted as hypothesis-generating rather than confirmatory. Three patients with high-pathogenicity genotypes, either homozygous or compound heterozygous, met clinical criteria for definitive FMF and achieved stable disease control with adjunctive colchicine. High-pathogenicity MEFV mutations are common among children with IBD in this FMF-endemic region and may be associated with a distinct pattern of extraintestinal complications, without a demonstrable effect on baseline disease activity or short-term treatment response. Larger, prospective, multicentre studies are needed to confirm this association.
