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Familial Mediterranean Fever Is Commonly Diagnosed in Children in Israel with Periodic Fever Aphthous Stomatitis,

Yonatan Butbul Aviel1, Liora Harel2, Maryam Abu Rumi3

  • 1Department of Pediatrics B, Ruth Rappaport Children's Hospital, Rambam Medical Center, Haifa, Israel; Pediatric Rheumatology Service, Ruth Rappaport Children's Hospital, Rambam Medical Center, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

The Journal of Pediatrics
|October 27, 2018
PubMed

Insights

Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) and familial Mediterranean fever (FMF) frequently co-occur in Mediterranean populations. This suggests a potential shared genetic influence on these autoinflammatory conditions.

Area of Science:

  • Pediatric Rheumatology
  • Autoinflammatory Diseases
  • Genetics

Background:

  • Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a common autoinflammatory syndrome in children.
  • Familial Mediterranean fever (FMF) is another prevalent autoinflammatory condition, particularly in Mediterranean populations.
  • The potential overlap and shared characteristics between PFAPA and FMF in pediatric patients are not fully understood.

Purpose of the Study:

  • To describe a cohort of pediatric patients with co-occurring PFAPA and FMF.
  • To compare the clinical, laboratory, and genetic features of patients with PFAPA/FMF to those with PFAPA alone (sPFAPA).
  • To investigate the association between PFAPA and FMF in a pediatric population.

Main Methods:

  • Retrospective collection of clinical, laboratory, and genetic data from pediatric patients diagnosed with sPFAPA or PFAPA/FMF.
  • Comparison of patient cohorts from two primary Israeli medical referral centers.
  • Analysis of MEFV gene variants in patients diagnosed with PFAPA/FMF.

Main Results:

  • Over half of the 270 PFAPA patients were of Mediterranean ancestry, with 18.9% also diagnosed with FMF (PFAPA/FMF).
  • The PFAPA/FMF group reported significantly more abdominal pain, myalgia, and arthralgia compared to the sPFAPA group.
  • While colchicine was more frequently prescribed for PFAPA/FMF, symptom alleviation was similar between groups.

Conclusions:

  • A strong association exists between PFAPA and FMF in pediatric patients of Mediterranean ancestry.
  • Clinicians should recognize that PFAPA may evolve into FMF, suggesting a potential shared pathogenesis.
  • The MEFV gene may play a role in the pathogenesis of PFAPA, warranting further investigation.
Abstract

Keywords:
FMFPFAPA

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