The role of MEFV gene mutations in the therapeutic management of spondyloarthropathies El papel de las mutaciones del gen MEFV en el manejo terapéutico de las espondiloartropatías
Reumatologia Clinica, 2026 (ESCI, Scopus)
- Yayın Türü: Makale / Tam Makale
- Basım Tarihi: 2026
- Doi Numarası: 10.1016/j.reuma.2026.502249
- Dergi Adı: Reumatologia Clinica
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, EMBASE, MEDLINE, DIALNET, Academic Search Ultimate (EBSCO), Biomedical Reference Collection: Corporate Edition (EBSCO)
- Anahtar Kelimeler: Ankylosing spondylitis, Axial spondyloarthritis, Biologic therapy, Familial Mediterranean Fever, MEFV mutation
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Intraduction: The role of MEFV gene mutations in modifying disease course and treatment response in spondyloarthritis (SpA) remains unclear. We aimed to evaluate the the clinical and therapeutic implications of MEFV gene mutations. Methods: A total of 131 SpA patients were categorized into MEFV negative (n = 50), MEFV carrier (n = 38), and Familial Mediterranean Fever (FMF) accompanying SpA (n = 43) groups. Pathogenic variant carriers were further analyzed. Clinical features, disease activity scores, and treatment outcomes – including biologic DMARD use and response – were compared across the groups. Results: The FMF accompanying SpA group had a significantly earlier disease onset (p = 0.021) and higher amyloidosis frequency (p = 0.040). Biologic usage rates were similar across groups (76% vs. 60.5% vs. 69.8%, p = 0.295), as were anti-TNF response rates (80% vs. 77.3% vs. 78.6%, p = 0.210). No significant differences were found when comparing pathogenic MEFV carriers with MEFV negative patients. Conclusion: While MEFV mutations did not significantly alter classical disease activity measures or response rates to anti-TNF therapy in SpA patients, their presence, particularly in those with concomitant FMF, was associated with an increased risk of amyloidosis and a tendency toward a more complex inflammatory phenotype. Larger cohorts and prospective studies will clarify the impact of MEFV mutations on amyloidosis risk and treatments outcomes in SpA patients.