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Published on: May 16, 2025
Coexistence of familial Mediterranean fever and rheumatoid arthritis
Kiyoshi Migita1, Seigo Abiru, Osamu Sasaki
1Department of Rheumatology, Clinical Research Center, NHO National Nagasaki Medical Center , Kubara 2-1001-1, Omura 856-8652 , Japan.
Abstract:
Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent febrile polyserositis and arthritis. Although accompanying seronegative spondyloarthropathy has been reported in FMF, coexistence with rheumatoid arthritis (RA) is very rare. This case report describes a Japanese female RA patient who presented with periodic fever. Genetic analysis revealed compound heterozygous mutations in exon 2 and 3 of the MEFV gene (E148Q/G304R/P369S/R408Q). The patient was successfully treated with colchicine with 3-year follow-up.
Insights
Familial Mediterranean fever (FMF), a rare autoinflammatory disorder, co-occurred with rheumatoid arthritis (RA) in a Japanese patient. Colchicine treatment proved effective for managing FMF symptoms in this unique case.
Area of Science:
- Rheumatology
- Genetics
- Immunology
Background:
- Familial Mediterranean fever (FMF) is an autoinflammatory disease causing recurrent fever, polyserositis, and arthritis.
- While seronegative spondyloarthropathy is known to occur with FMF, its coexistence with rheumatoid arthritis (RA) is exceptionally rare.
Observation:
- This case report details a Japanese female diagnosed with rheumatoid arthritis who experienced periodic fevers.
- The patient presented with symptoms suggestive of FMF alongside her established RA diagnosis.
Findings:
- Genetic analysis identified compound heterozygous mutations in the MEFV gene (E148Q/G304R/P369S/R408Q) in the patient.
- These mutations are associated with Familial Mediterranean fever.
Implications:
- This case highlights the rare co-occurrence of FMF and RA, expanding the clinical spectrum of both conditions.
- Successful colchicine treatment in this patient suggests its potential efficacy for managing FMF in the context of RA.
- Further research into the genetic and clinical interplay between FMF and RA may be warranted.
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