Health-related quality of life in children with Familial Mediterranean Fever: a Pediatric Quality of Life Inventory-based evaluation with mutation-specific analysis.

Familial Mediterranean Fever (FMF) is a chronic autoinflammatory disease that may adversely affect health-related quality of life (HRQoL) in childhood. The relative contributions of age, inflammatory burden, and MEFV mutation type to HRQoL impairment remain incompletely clarified. This cross-sectional study included 100 children with FMF and 70 age- and sex-matched healthy controls. HRQoL was assessed using the Pediatric Quality of Life Inventory (PedsQL™) child self-report (ages ≥ 8 years) and parent proxy-report forms. PedsQL scores were compared between groups and across age categories and mutation types. Receiver operating characteristic analysis was performed to determine cut-off values for impaired HRQoL, and multivariate logistic regression was used to identify independent predictors. Total and subscale PedsQL scores were significantly lower in children with FMF compared with controls, particularly in the 8-12 and 13-18 age groups (p < 0.001). Strong correlations were observed between child- and caregiver-reported scores. An overall PedsQL total score < 86 was identified as the optimal cut-off for poor HRQoL. In multivariate analysis, age 8-12 years and elevated C-reactive protein levels (> 3 mg/L) were identified as independent predictors of impaired HRQoL. No significant independent association was observed between MEFV mutation subgroups and HRQoL.

conclusionHRQoL is significantly reduced in children with FMF, particularly in those aged 8-12 years and in patients with evidence of ongoing inflammatory activity. Inflammatory markers rather than mutation type were associated with impaired HRQoL in this cohort. These findings underscore the importance of routine HRQoL assessment in the clinical follow-up of pediatric FMF patients. WHAT IS KNOWN: • Familial Mediterranean Fever (FMF) is a chronic autoinflammatory disease that can negatively affect health-related quality of life in children. • Previous studies have reported impaired quality of life in FMF; however, the relative impact of age, subclinical inflammation, and mutation status remains unclear. WHAT IS NEW: • This study demonstrates that impaired quality of life in pediatric FMF was independently associated with age (8-12 years) and elevated CRP levels rather than MEFV mutation type. • A clinically meaningful Pediatric Quality of Life Inventory (PedsQL) cut-off value is proposed to help identify children at risk for poor quality of life during routine follow-up.