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Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome is the most common autoinflammatory syndrome of childhood, particularly among non-Mediterranean populations.1 The condition is characterised by recurrent and periodic episodes of unprovoked systemic inflammation (fevers and raised acute phase reactants) lasting 3–7 days that are often accompanied by localised inflammation (stomatitis, pharyngitis and adenitis). The underlying aetiopathogenesis of PFAPA syndrome remains a mystery, but various patterns of dysregulated innate and T-cell immune responses have been described.1 Approximately one quarter of children with PFAPA syndrome have a positive (usually undiagnosed) family history; however, whole exome sequencing is yet to identify a monogenic genetic aetiology for PFAPA.1 2 Individuals with PFAPA syndrome share minor genetic susceptibility loci with Behçet’s disease and recurrent aphthous stomatitis, suggesting these conditions may lie on a common spectrum.2 Typically, PFAPA begins in early childhood (1–5 years old), with episodes occurring every 2–8 weeks, before gradually and completely resolving in adolescence in most patients.1 Between episodes, children are clinically well, with typical growth and development. Management approaches include watchful waiting, treatment with prednisolone at symptom onset (abrupt abortive effect on fever), regular colchicine (can reduce frequency and intensity of episodes) and tonsillectomy (can be curative).1
The diagnosis of PFAPA syndrome is challenging, as febrile episodes are often misinterpreted as viral infections. PFAPA episodes can be distinguished from infections by the absence of sick contacts, recurrent failure to isolate causative pathogens and the ‘clockwork’ periodicity of the episodes, with parents often able to predict precisely the date their child will experience their next attack.1 The epidemiology of PFAPA syndrome is poorly defined, owing to the challenges in …
Correction notice This paper has been amended since it was first published. The first author's name has been corrected.
Contributors AVR and AG conceptualised the idea. PS drafted the initial version and AVR and AG reviewed and revised drafts.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests AVR has received speaker and consulting fees from AbbVie, Eli Lilly, Novartis, Roche, Sobi and UCB.
Provenance and peer review Commissioned; externally peer reviewed.