A Japanese case of familial Mediterranean fever with a MEFV gene mutation.

A 17-year-old Japanese male with a three-year history of recurrent episodic chest pain and fever, each lasting for one to three days, was diagnosed with familial Mediterranean fever (FMF) because of the following: 1) short attacks of chest pain and fever recurring at varying intervals; 2) no symptoms with a sense of well-being between attacks; and 3) identification of the Mediterranean fever gene (MEFV) mutation demonstrating M6941. Although FMF has been described primarily in several limited ethnic groups, a limited number of cases have been reported in Japan. No specific diagnostic tests are commercially available for FMF so identifying the characteristic clinical picture of FMF is important.