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Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome

  • Ezgi Deniz Batu
  • Fatma DedeogluEmail author
Chapter

Abstract

PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis) syndrome is an autoinflammatory disorder mainly affecting children. The diagnosis is based on clinical characteristics since there is no specific laboratory or genetic marker. The disease generally starts in early childhood and resolves by adolescence; however, persistence into adulthood can be seen in rare cases. Moreover, adult-onset PFAPA syndrome has also been reported. Previous studies suggest a polygenic background with immune dysregulation, though the exact pathogenesis remains unclear. Inflammasome-related genes and pro-inflammatory cytokines, such as interleukin-1, seem to play central roles in the pathogenesis. It is considered a benign disease with a high rate of spontaneous resolution and absence of long-term sequela such as secondary amyloidosis. Both pharmacological (corticosteroids, colchicine, etc.) and surgical (tonsillectomy) therapy options are available for PFAPA; however, the optimal treatment strategy is a matter of debate. Further collaborative studies are needed to develop consensus in diagnosis and management guidelines for PFAPA syndrome.

Keywords

PFAPA Periodic fever Aphthous stomatitis Sterile pharyngitis Adenitis 

Notes

Acknowledgements

The authors thank Aiyana Ryan for taking time for proof-reading and providing assistance in formatting the drafts.

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Authors and Affiliations

  1. 1.Department of Pediatrics, Division of RheumatologyAnkara Training and Research Hospital, University of Health SciencesAnkaraTurkey
  2. 2.Rheumatology Program/Division of Immunology, Department of MedicineBoston Children’s Hospital, Harvard Medical SchoolBostonUSA

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