PFAPA Syndrome: Evaluation of Clinical Findings, Immunological Alterations, and Treatment Approaches

Abstract

Introduction: PFAPA syndrome is an autoinflammatory disease seen in childhood characterized by recurrent fever, aphthous stomatitis, pharyngitis, and cervical adenitis. This study aims to examine the clinical and laboratory features of PFAPA syndrome, assess responses to treatment, and particularly evaluate the disease from an immunological perspective. Materials and Methods: Forty-nine patients presenting to the Pediatric Immunology and Allergy outpatient clinic and meeting the diagnostic criteria for PFAPA were evaluated. Demographic information, symptoms, physical examination findings, laboratory results, and responses to treatment were meticulously recorded. Results: Our study included a total of 49 patients, comprising 30 males and 19 females, with a mean age at diagnosis of 3.5 years. Notable findings in immunological assessments included neutrophilia, leukocytosis, and in a few cases, lymphopenia, as well as changes in CD3 and CD19 subsets that highlighted the immunological aspect of the disease, indicating significant alterations in the adaptive immune system. Prednisolone treatment resulted in a response rate of 92.5%, with most patients showing a rapid improvement. Eighty-one point eight percent of patients receiving colchicine prophylaxis reported a decrease in symptoms. The symptoms in 13.5% of patients who underwent tonsillectomy either significantly decreased or completely resolved. Conclusion: Management of PFAPA syndrome varies in terms of immunological findings and response rates to treatment. Our study elucidates the effectiveness of prednisolone treatment, the benefits of colchicine prophylaxis, and the improvement in symptoms following tonsillectomy. Furthermore, it underscores the necessity of considering immunological factors in the diagnosis and treatment processes of PFAPA syndrome.