Concurrence of familial Mediterranean fever and Behçet's disease: a case report and review of the literature

Abstract

Background: Familial Mediterranean fever and Behçet's disease are distinct disorders that are prevalent in the Mediterranean and Middle Eastern populations. They are characterized by unprovoked inflammatory episodes caused by overexpression of proinflammatory cytokines. Although reported previously, the overlapping presentation of familial Mediterranean fever and Behçet's disease remains uncommon.

Case presentation: A 46-year-old Lebanese-Canadian man who presented with recurrent oral and genital ulcers, polyarticular synovitis, ocular swelling, recurrent infections, and fevers was later found to have heterozygous mutations of pathogenic MEFV c.2080A > G (p. Met 694Val) and c.2082G > A (p.Met694IIe) genes indicating familial Mediterranean fever. He was treated with prednisone, colchicine, and azathioprine, with inadequate symptoms control. Treatment was complicated by recurrent infections.

Conclusions: Our case contributes to the growing literature demonstrating the presentation of predominantly Behçet's disease-like features in the setting of diagnosis of familial Mediterranean fever. These findings emphasize that clinicians should be aware that patients with familial Mediterranean fever may present with Behçet's disease-like clinical manifestations.

Keywords: Autoinflammatory disease; Behçet’s disease; Case report; Familial Mediterranean fever.