Epidemiology and Clinical Course of PFAPA Syndrome in the Pediatric Population

Objective 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. Its pathogenesis and clinical course remain the subject of ongoing research. The aim of this study was to provide a detailed characterization of PFAPA syndrome in a large Polish pediatric cohort. Methods We conducted a retrospective cross-sectional 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. Results 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/dL, 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.