A retrospective analysis of 7 cases of familial mediterranean fever

Abstract

summary Background: Familial mediterranean fever (FMF) is a single inherited autoinflammatory disease characterized by periodic fever with relatively short duration of 1 to 3 days and sterile serositis. Although the prevalence rate is highest in the Mediterranean coastal area, a large number of cases have been reported recently by genetic analysis by identification of MEFV (Mediterranean fever) which is responsible gene in Japan too. In outpatient department of rheumatology, diagnosis and treatment of FMF is performed in cases where fever and abdominal pain attack are repeated for a short period of time. Patients and Methods: We examined cases in which symptoms considered periodic seizures were repeated, excluding autoimmune diseases, infectious diseases, and malignant tumors. In both cases, genetic analysis is performed as auxiliary diagnosis. Results: Seven cases satisfied the Tel-Hashomer criteria criteria and MEFV gene mutation was detected. Everyone was a female, and half had seizure symptoms at menstruation. Even though there is a difference in the amount of colchicine to be used, either one is effective. Conclusion: In cases of periodic symptoms or cases called periodic fever, exclusion diagnosis is carried out, there is a need to suspect FMF, determine the effect of colchicine, and perform genetic analysis.

Five Cases of Familial Mediterranean Fever in Japan: The Relationship with <i>MEFV</i> Mutations

“…Recently, more case reports of FMF patients have been published in Japan. Ogita et al ( 18 ) recently reported seven Japanese cases of FMF which all carried MEFV mutations and responded well to colchicine treatment. Kinoshita et al ( 19 ) presented a case of Mollaret meningitis with an MEFV mutation, which showed a similar clinical course to our case 2.…”

Familial Mediterranean fever with colonic lesions: A case report

“…Familial Mediterranean fever (FMF) is an autoimmune disease caused by mutations in the MEFV gene and is characterized by periodic fever associated with peritonitis, pleuritis, and arthritis. Prevalent mutation sites in the MEFV gene are known to vary by race, and approximately 500 patients with FMF have been reported in Japan 1 . Gastrointestinal mucosal damage in FMF is rare; however, gastrointestinal lesions resembling inflammatory bowel disease have been reported.…”

“…Prevalent mutation sites in the MEFV gene are known to vary by race, and approximately 500 patients with FMF have been reported in Japan. 1 Gastrointestinal mucosal damage in FMF is rare; however, gastrointestinal lesions resembling inflammatory bowel disease have been reported. In patients with atypical inflammatory bowel disease, periodic fever, and joint symptoms, FMF should be considered for differential diagnosis.…”

Familial Mediterranean Fever with Small Bowel Stenosis

“…So far, reports on more than 4,000 patients with FMF have been published worldwide. Approximately 500 FMF patients have been reported in Japan, and the number of such patients has recently tended to increase (1). Patients who have FMF usually present to hospital with abdominal pain and fever.…”