A Japanese family with adult-onset familial mediterranean fever and periodic episodes of high fever and abdominal pain

Abstract

Familial Mediterranean fever (FMF) is an autoinflammatory disease. The patient was a 28-year-old Japanese man with attacks of fever and abdominal pain, which recurred at 1-to 3-month intervals. These symptoms usually improved spontaneously 1 week later. Physical examination showed tenderness in the right lateral abdomen. Routine laboratory tests demonstrated an increase in inflammatory reactions in the serum with leukocytosis. No abnormal findings were found on either chest, or abdominal CT scans, or endoscopic examinations of the upper or lower gastrointestinal tracts. Renal and hepatic function were within the normal limits, and no positive results were obtained for an anti-nuclear antibody. DNA analysis demonstrated a heterozygous mutation in the MEFV gene, the compound pyrin variant E148Q/M694I, leading to a diagnosis of FMF. His father had also had the same symptoms for 30 years, and was also heterozygous for the pyrin variant E148Q/M694I. They both responded dramatically to colchicine treatment and have remained in full remission until the time of writing.