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PFAPA Syndrome in a Population with Endemic Familial Mediterranean Fever

Esra Pehlivan1, Amra Adrovic1, Sezgin Sahin1

  • 1Department of Pediatric Rheumatology, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.

The Journal of Pediatrics
|October 17, 2017
PubMed

Insights

Periodic fever, aphthosis, pharyngitis, and adenitis (PFAPA) patients unresponsive to adenotonsillectomy may have Familial Mediterranean fever. This suggests considering MEFV gene mutations in refractory PFAPA cases.

Area of Science:

  • Pediatrics
  • Genetics
  • Rheumatology

Background:

  • Periodic fever, aphthosis, pharyngitis, and adenitis (PFAPA) is a common autoinflammatory syndrome in children.
  • Adenotonsillectomy is a curative treatment for most PFAPA patients.
  • The differential diagnosis of PFAPA can be challenging, especially in atypical cases.

Purpose of the Study:

  • To investigate the clinical course and treatment response in PFAPA patients.
  • To explore the association between PFAPA and MEFV gene mutations.
  • To identify potential alternative diagnoses for PFAPA cases refractory to standard treatment.

Main Methods:

  • Retrospective review of medical records of patients diagnosed with PFAPA.
  • Analysis of clinical manifestations, treatment outcomes, and response to adenotonsillectomy.
  • Genetic testing for MEFV gene mutations in a subset of patients.

Main Results:

  • The study identified specific clinical patterns in PFAPA patients.
  • A significant proportion of patients who did not respond to adenotonsillectomy showed no improvement.
  • MEFV gene mutations were investigated in relation to PFAPA presentation and treatment response.

Conclusions:

  • Familial Mediterranean fever (FMF) should be considered in the differential diagnosis of PFAPA.
  • Patients with PFAPA who are refractory to adenotonsillectomy may benefit from evaluation for MEFV gene mutations.
  • This finding expands the understanding of autoinflammatory conditions and their genetic underpinnings.
Keywords:
Familial Mediterranean feverMEFV gene frequencyPFAPA syndromecryptic tonsillitisperiodic fevertonsillectomy

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