Identification of pathogenic MEFV variants in Korean patients with familial Mediterranean fever via whole-genome sequencing: a case report

Abstract

Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent episodes of fever, serositis, and arthritis. It is caused by variants in the MEFV gene, which encodes the pyrin protein. FMF primarily affects individuals of Mediterranean and Middle Eastern descent, and six cases have been reported in the Korean population to date. However, the pathogenicity of the MEFV gene variants identified in previous Korean cases remains uncertain. Here, we report two cases of Korean patients with FMF, confirmed to have pathogenic variants in the MEFV gene through whole-genome sequencing. A 43- and 42-year-old male presented with intermittent fever, abdominal pain, and chest pain, which began in their teenage years. Whole-genome sequencing revealed the M694I and R761H variants in exon 10 of the MEFV gene in each patient, both recognized as pathogenic for FMF. Following the genetic confirmation of FMF, both patients were treated with colchicine. To our knowledge, this is the first report of Korean FMF cases with confirmed pathogenic variants in the MEFV gene.

Keywords: Familial Mediterranean fever; Korea; Missense mutation.

Figure 1

Abdominal computed tomography scans of familial Mediterranean fever patients during symptomatic fever and abdominal pain episodes. (A) Case 1: diffuse, subtle mesenteric haziness (arrow heads). (B) Case 2: inflammation in the omentum (arrow heads).