Impact of MEFV genotypes on the quality of life of pediatric patients with familial Mediterranean fever

Background Familial Mediterranean fever (FMF) is the most prevalent inherited autoinflammatory disorder in the Mediterranean region, characterized by recurrent febrile episodes and polyserositis. Assessing the quality of life (QoL) in pediatric FMF patients is crucial for optimizing disease management and improving overall well-being. Aim To evaluate the impact of different mediterranean fever gene variants (MEFV) genotypes on the QoL of pediatric patients with FMF. Patients and methods This case–control study included 70 children with FMF and 70 age- and sex-matched healthy controls recruited from the Systemic Autoinflammatory Clinic at Alexandria University Children’s Hospital, Egypt. Health-related QoL was assessed using the validated Arabic version of the Pediatric Quality of Life Inventory (PedsQL 4.0 Generic Core Scale). Results FMF patients exhibited significantly lower QoL scores compared with healthy controls across all domains in both self- and parent-reported assessments ( P <0.0001). The genetic pattern had a significant influence on QoL: the highest self-reported scores were observed in heterozygous patients, while parent-reported scores were highest among genetically negative cases. In both assessments, the lowest scores were recorded in patients with homozygous mutations. Regression analysis identified earlier age at disease onset and uncontrolled disease activity as significant determinants of poorer QoL ( P =0.044 and 0.035, respectively). Conclusion This study highlights the significant impact of genetic patterns on QoL in pediatric FMF patients. Children with homozygous MEFV mutations exhibit the lowest QoL and require enhanced medical, psychological, and social support. Individualized, genotype-based management approaches may improve outcomes in this high-risk group.