Paediatric PFAPA Syndrome: an Easily Missed Diagnosis

PFAPA (Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis) syndrome is an autoinflammatory condition characterised by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis, and cervical adenitis. It typically presents before the age of 5 years, with over 60% of cases occurring in males. The prevalence of PFAPA is unknown, but over 500 cases have been reported. The syndrome is diagnosed on the basis of clinical manifestations and is a diagnosis of exclusion. It is characterised by episodes of fever lasting for 3–6 days, with recurrences every 3–8 weeks. Patients are usually asymptomatic between episodes and show normal growth. The aetiology of PFAPA is unknown, it is considered an immune-mediated disease characterised by cytokine dysfunction. Genetic factors may also play a role, as suggested by the strong familial clustering of the syndrome. There is no specific treatment for PFAPA, and its management is based on controlling the symptoms and preventing future episodes.