2021 Volume 33 Issue 3 Pages 189-197
Familial Mediterranean fever（FMF）is an autoinflammatory disease which repeats fever and serosa-like symptoms periodically. Accumulation of cases diagnosed as FMF by genetic analysis is advanced. We report a genetically diagnosed FMF case who demonstrated gastrointestinal symptoms periodically from the age of 15 years. Although diagnosis and treatment have been difficult in gynecology and gastroenterology, we made a diagnosis of FMF by genetic analysis and clinical efficacy of colchicine. Although the family has no history for similar case, genetic test revealed that the patient who was a minor at onset has M694I heterozygote of exon 10 of MEFV gene, which is prevalent in typical FMF cases. Her asymptomatic father was also found to have the M694I heterozygote. There were many isolated cases in Japan, and as in the case of the father in this instance, it is possible that many FMF patients may be latent. The patient as well as her asymptomatic mother demonstrated the presence of E148Q heterozygote in exon2 of MEFV gene that have been reported to show allele frequencies as high as 16-23% in normal individuals. Compared to overseas cases, delayed onset of FMF and milder symptoms have been prevalent in Japan. Therefore, it is under evaluation whether it is necessary to actively carry out genetic testing for parents of FMF patients.
