MEFV gene is a probable susceptibility gene for Behçet's disease.

OBJECTIVE: Behçet's disease (BD) is a rare, chronic, multisystem inflammatory disorder. The prevalence of BD is higher in the Middle Eastern and Mediterranean populations. Another chronic inflammatory disease, familial Mediterranean fever (FMF), is also known to be highly prevalent in these populations. The prevalence of BD is higher in the FMF patient population than in populations known to be rich in BD . Both BD and FMF have some pathophysiological features in common and they result from inappropriate activation of neutrophils. Clinical manifestations of both diseases can mimic each other and the coexistence of both diseases in the same patient has been reported. Given that BD and FMF have similar pathophysiological, epidemiological, and clinical features, we hypothesized that the gene responsible for FMF, MEFV, may also play a role in the pathogenesis of BD.

METHODS: Forty-two BD patients who had no symptoms and family history for FMF and 66 healthy controls were screened for common MEFV gene mutations (E148Q, M680I, M694V, and V726A).

RESULTS: Fifteen patients (36%) displayed MEFV mutations (nine M694V, five E148Q, and one M680I) and mutation rates were significantly elevated compared to 66 (11%) healthy controls (p = 0.0034).

CONCLUSION: The occurrence of frequent MEFV mutations in BD patients suggests that the MEFV gene is involved in the pathogenesis of Behçet's disease.