Epidemiology and clinical course of PFAPA syndrome in the pediatric population-single center study

PFAPA syndrome is the most common autoinflammatory disease of childhood, with an as yet unknown etiology. It is characterized by recurrent, periodic episodes of fever accompanied by specific clinical features. The aim of this study was to provide a detailed characterization of PFAPA syndrome in a large Polish pediatric cohort.

We conducted a retrospective study based on data from 47 children with a confirmed diagnosis of PFAPA syndrome. Data were collected using structured questionnaires. Detailed analyses included clinical manifestations, therapeutic approaches, and laboratory findings.

The median age of the study population was 5 years, with a predominance of males (59.6%). In 91.5% of patients, the first episode of fever occurred before the age of 5 years. Febrile episodes lasted a mean of 5 days, with a median inter-episode interval of 3 weeks. The key clinical manifestations included cervical lymphadenopathy (91.5%), tonsillar exudates (85.1%), pharyngitis (74.5%), and oral aphthae (51.1%). During afebrile intervals, 87.2% of patients were free of symptoms. Laboratory evaluation showed elevated inflammatory markers, with a median C-reactive protein level of 6.9 mg/d (in the 9 patients with available laboratory data), a median erythrocyte sedimentation rate of 35.0 mm/h, and a mean neutrophil count of 11.8 × 10^3/µL. Prednisone treatment was effective in 97.6% of cases. Tonsillectomy was performed in 25.5% of children and resulted in complete resolution of febrile episodes in 83.3% of them.

This study confirms the established epidemiologic and clinical profile of PFAPA syndrome in the pediatric population, highlighting its characteristic manifestations and the high effectiveness of glucocorticoid therapy and tonsillectomy. The findings may contribute to consolidating current knowledge about PFAPA and to reducing the inappropriate use of antibiotics.