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Familial Mediterranean fever: overview of pathogenesis, clinical features and management
Kiyoshi Migita1, Tomoyuki Asano1, Shuzo Sato1
1a Department of Rheumatology , Fukushima Medical University School of Medicine , Fukushima , Japan.
Abstract:
Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, and is characterized by recurrent attacks of fever and polyserositis. It is associated with mutations in the MEFV gene encoding pyrin, which result in inflammasome activation and the uncontrolled production of IL-1β. FMF mainly affects individuals originating from the Mediterranean basin; however, a Japanese nationwide survey demonstrated that FMF is not uncommon in Japan. The survey also indicated that Japanese FMF patients are clinically or genetically distinct from Mediterranean FMF patients, suggesting a genotype-phenotype correlation. In Japanese patients with FMF, MEFV exon 10 mutations are associated with the more typical FMF phenotype. Conversely, Japanese FMF patients with mutations in MEFV exons 2 or 3 present with an atypical FMF phenotype. Colchicine is the mainstay of FMF treatment, and its regular use prevents febrile attacks and decreases the long-term risk of AA amyloidosis. However, a minority of FMF patients are colchicine-resistant, and anti-IL-1 treatment has proven beneficial in suppressing inflammation in these patients. Although Japanese FMF patients may develop less severe disease compared with Mediterranean FMF patients, they should nevertheless be treated early to prevent recurrent attacks and the subsequent development of AA amyloidosis.
Insights
Familial Mediterranean fever (FMF) is a common autoinflammatory disease. Japanese FMF patients show distinct genotype-phenotype correlations, impacting disease presentation and treatment strategies.
Area of Science:
- Genetics
- Immunology
- Rheumatology
Background:
- Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, characterized by fever and polyserositis.
- FMF is caused by MEFV gene mutations, leading to inflammasome activation and IL-1β production.
- While prevalent in the Mediterranean, FMF is also observed in Japan, with potential distinct characteristics.
Purpose of the Study:
- To investigate the genotype-phenotype correlation in Japanese FMF patients.
- To compare clinical and genetic features of FMF in Japanese versus Mediterranean populations.
- To inform early diagnosis and treatment strategies for FMF in Japan.
Main Methods:
- Analysis of a Japanese nationwide survey on FMF patients.
- Genetic analysis of MEFV gene mutations (exons 2, 3, and 10).
- Clinical data review to assess FMF phenotype characteristics.
Main Results:
- Japanese FMF patients exhibit distinct clinical and genetic profiles compared to Mediterranean patients.
- MEFV exon 10 mutations correlate with a typical FMF phenotype in Japanese patients.
- Mutations in MEFV exons 2 or 3 are associated with an atypical FMF phenotype in Japanese patients.
Conclusions:
- A significant genotype-phenotype correlation exists in Japanese FMF patients.
- Early treatment is crucial for Japanese FMF patients to prevent attacks and AA amyloidosis.
- Anti-IL-1 therapy may benefit colchicine-resistant FMF cases.
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