Background Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is the most frequent repetitive fever syndrome in childhood. It is characterized with fever episodes lasting for about three to six days, once every three to eight weeks.
Objectives In this study, we aim to elucidate the clinical clues that will facilitate the identification of PFAPA which is a clinical diagnosis and the efficacy and safety of colchicine prophlaxis in a large cohort. Additionally, we intend to investigate the relation between MEFV gene mutations and clinical findings of PFAPA.
Methods Clinical and laboratory data of 400 consecutive patients with PFAPA syndrome followed up at the department of Pediatric Immunology and Rheumatology Uludag University Faculty of Medicine, were collected from the medical records retrospectively.
Results Four-hundred children (256 male, 144 female), the mean age at diagnosis was 4.2 ± 2.2 years, were involved in our study. During the episodes, the mean number of WBC was high (12724,7/mm3) with predominantly neutrophils. The mean number of monocytes was found to be 1256.2/mm3 and 90.2% of the patients had monocytosis. Serum amiloid A and C reactive protein levels were high in 84.6% and 77.8% of the patients, respectively. Procalcitonin was negative in 97.3% of the patients. MEFV gene heterozygous mutation was determined in 57 of the 231 patients (24.7%) tested. Colchicine prophylaxis was administered in 356 patients. The mean duration between episodes was prolonged from 18.8 to 49.5 days by prophylactic colchicine therapy. During the episodes, a single dose of 1 mg/kg methyl prednisolone was prescribed. Four patients underwent tonsillectomy.
Conclusions Our study, include the largest number of patients with PFAPA syndrome in the literature. It is particularly important to assess and to demonstrate the high rate of response to colchicine prophylaxis in patients with PFAPA syndrome, especially those with MEFV variant. In blood screening neutrophilia associated with monocytosis and low procalcitonin level could contribute to diagnosis.
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Disclosure of Interest None declared