European Journal of Pediatrics, vol.180, pp.1051-1058, 2021 (SCI-Expanded)
© 2020, Springer-Verlag GmbH Germany, part of Springer Nature.This study was conducted to investigate the relationship between clinic features and Mediterranean fever gene (MEFV) variants in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome. In total, 167 patients with PFAPA syndrome were included in the study. Female:male ratio of the patients was 0.75 (72 females, 95 males). In total 59.9% of patients with PFAPA had at least one MEFV variant and the most common heterozygous variants were M694V in 29.3% of the patients (40/167), E148Q in 8.3% (14/167), and V726A in 7.1% (12/167). The median age at the disease onset was significantly higher and the median duration of the episodes was significantly lower in patient with variants in exon 10 comparing to the others (both p = 0.01). Similarly, the median age at the disease onset was significantly higher (p = 0.01) and the median duration of the episodes was significantly lower (p = 0.04) in patient with MEFV variants than in the remaining patients. There were no significant differences according to the genotypes of the patients in terms of both treatment response and the frequency of clinical findings. Conclusion: In PFAPA syndrome, MEFV variants may be a modifier for disease onset and attack duration.What is Known:• Due to periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome having clinical findings resembling familial Mediterranean fever (FMF), it can be difficult to distinguish PFAPA syndrome and FMF especially in endemic regions for FMF.• Underlying MEFV mutations could affect the periodic fever, aphthous stomatitis, pharyngitis, and adenitis(PFAPA) syndrome’s clinical presentation and response to treatment.What is New:• Having one of the underlying MEFV variants is related to later disease onset and shorter episode duration in patients with PFAPA syndrome.