Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome - PFAPA syndrome

Presse Med. 2019 Feb;48(1 Pt 2):e77-e87. doi: 10.1016/j.lpm.2018.08.016. Epub 2019 Jan 22.

Abstract

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is a complex autoinflammatory disease with a clinical phenotype characterised by recurrent episodes of fever, systemic inflammation and symptoms and signs depicted in disease acronym. Although PFAPA is the most common autoinflammatory disease among children in many parts of the world, the condition is still an enigma, which include the regular episodes, the prompt responses to corticosteroids, the genetic bases for the familial clustering and therapeutic effects of tonsillectomy. This review explores PFAPA syndrome with the aim of describing the current clinical and scientific understanding of the condition.

MeSH terms

  • Adrenal Cortex Hormones / therapeutic use
  • Anti-Inflammatory Agents, Non-Steroidal / therapeutic use
  • Combined Modality Therapy
  • Diagnosis, Differential
  • Fever / etiology
  • Genetic Predisposition to Disease
  • Hereditary Autoinflammatory Diseases* / classification
  • Hereditary Autoinflammatory Diseases* / diagnosis
  • Hereditary Autoinflammatory Diseases* / genetics
  • Hereditary Autoinflammatory Diseases* / physiopathology
  • Humans
  • Inflammation
  • Lymphadenitis / genetics
  • Mevalonate Kinase Deficiency / diagnosis
  • Pharyngitis / genetics
  • Pharyngitis / surgery
  • Prognosis
  • Recurrence
  • Stomatitis, Aphthous / genetics
  • Syndrome
  • Tonsillectomy

Substances

  • Adrenal Cortex Hormones
  • Anti-Inflammatory Agents, Non-Steroidal