The Role of FMF Subtypes in the Development of Sacroiliitis in Patients with Familial Mediterranean Fever

Introduction: Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disorder commonly associated with MEFV gene mutations. While arthritis is a well-documented manifestation, axial involvement such as sacroiliitis remains rare and poorly understood. This study aimed to assess the relationship between MEFV mutation subtypes and sacroiliitis in FMF patients.Materials and Methods: A cross-sectional study was conducted on ۱۱۵ genetically confirmed FMF patients at Bu-Ali Hospital in Ardabil. Demographic, clinical, and genetic data were collected, including family history, parental consanguinity, and MEFV mutation subtypes. Sacroiliitis was evaluated based on clinical and imaging findings. Statistical analysis was performed using chi-square and t-tests with a significance level of P < ۰.۰۵.Results: Only one patient (۰.۸۷%) was diagnosed with sacroiliitis. This patient had a compound heterozygous mutation (R۲۰۲Q-M۶۹۴V), positive family history, and parental consanguinity. Sacroiliitis was significantly associated with family history of FMF (P = ۰.۰۴), but not with other demographic or genetic variables.Conclusion: Although sacroiliitis was rare, its association with family history and specific MEFV mutations may suggest a genetic predisposition. Further large-scale studies are recommended to clarify the role of MEFV genotypes in axial involvement in FMF.

کلیدواژه ها:

Familial Mediterranean fever ، MEFV mutations ، sacroiliitis ، genotype-phenotype correlation