A Heterozygotic Japanese Patient with Familial Mediterranean Fever (FMF) Pyrin M694I

Although patients with familial Mediterranean fever (FMF) are often found in non-Ashkenazi Jewish, Armenian, Arab and Turkish people, only a few cases have been reported in Asian people. We here report a 31-year-old man suffering from diarrhea and recurrent fever with pains in abdomen. For ten years, he had experienced repeated abdominal pain attacks once six months and underwent appendectomy at the age of 21-year-old. Laboratory examinations revealed that in the febril phase, leukocytosis and elevated CRP were recognized. Despite physical and laboratory examinations, infectious diseases, collagen disorders or malignancy was not listed. Although a colonoscopic examination revealed normal macroscopic findings, Congo red staining for mucosal biopsy specimen from the rectum showed amyloid deposits around vessels of propria mucosa and submucosa. Serum amyloid A levels were increased in the febril phase. DNA analyses by polymerase chain reaction (PCR) followed by cycle sequencing revealed a heterozygotic mutant (ATG to ATA) in codon 694 in exon 10 of FMF (pyrin) gene resulting in a substitution of isoleucine for methionine (M694I) in this patient. Based on these findings, he was diagnosed as FMF with amyloidosis. The symptoms have also been suppressed by treatment of oral colchicines. Although FMF had been thought to be a rare disease in Asian countries, such patients may be more often found if we suspect the disease in such cases.