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A retrospective analysis of 7 cases of familial mediterranean fever
Chie Ogita1, Kiyoshi Matsui1, Dai Kisida2
1Division of Rheumatology, Department of Internal Medicine, Hyogo College of Medicine.
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.
Insights
Familial Mediterranean Fever (FMF) is an inherited autoinflammatory disease. Genetic analysis and colchicine treatment are crucial for diagnosing and managing FMF, even in Japan.
Area of Science:
- Rheumatology
- Genetics
- Autoinflammatory Diseases
Background:
- Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disorder.
- Characterized by recurrent fever, sterile serositis, and abdominal pain.
- MEFV gene mutations are responsible, with increasing identification in Japan.
Observation:
- Seven cases with periodic symptoms were analyzed, excluding other diseases.
- Genetic analysis was used as an auxiliary diagnostic tool.
- All identified cases were female, with half experiencing symptoms during menstruation.
Findings:
- All seven cases met the Tel-Hashomer criteria.
- MEFV gene mutations were confirmed in all patients.
- Colchicine demonstrated effectiveness in managing FMF symptoms, regardless of dosage variations.
Implications:
- Suspecting FMF is vital for periodic fever and abdominal pain cases.
- Exclusionary diagnosis is necessary.
- Genetic testing and colchicine response assessment are key for accurate FMF diagnosis and management.
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