Relationship between genetic and clinical findings in pediatric patients with Familial Mediterranean Fever

Authors : Handan Kekeç, Abdullah Arpacı, Çiğdem El
Pages : 530-539
Doi:10.17826/cumj.1664798
View : 89 | Download : 134
Publication Date : 2025-06-30
Article Type : Research Paper
Abstract :Purpose: Familial Mediterranean Fever (FMF) (OMIM #249100) exhibits varying clinical severity, influenced by genetic mutations. This study aimed to assess the relationship between FMF genotypes and disease severity in pediatric patients. Materials and Methods: This retrospective cross-sectional study included FMF patients aged 0-18 years who were followed up between January 1, 2016, and June 1, 2017. Demographic data, clinical findings, Pras disease severity scores (Pras score), and MEFV gene mutations were analyzed. Patients were classified into four genetic groups: homozygous, heterozygous, compound heterozygous, and those without detected mutations. Clinical characteristics and disease severity were compared. Results: Among 126 FMF patients (49.2% female), the median age at symptom onset was 60 (12–168) months, and the median age at diagnosis was 76 (23–180) months, resulting in a median diagnostic delay of 12 (0–120) months. Common symptoms included abdominal pain (98%), fever (87.3%), arthralgia (60.3%), and myalgia (60.3%). The median Pras score was 6 (range: 4–11), with 40.5% classified as mild, 43.7% as moderate, and 15.8% as severe. Genetic analysis revealed that 50% of the individuals had compound heterozygous mutations, 30.2% had homozygous mutations, 13.5% had heterozygous mutations, and 6.3% had no mutations. No significant differences were found among mutation groups regarding clinical characteristics or disease severity. Conclusion: Pediatric FMF exhibits clinical heterogeneity, and genotype alone may not be an effective predictor of severity. A comprehensive clinical approach remains essential for diagnosis and management.
Keywords : Ailevi Akdeniz Ateşi, MEFV mutasyonu, Genotip-Fenotip, Pediatrik

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