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Periodic fever syndromes: a diagnostic challenge for the allergist

M Lierl1

  • 1Cincinnati Children's Hospital Medical Center - Allergy and Immunology, Cincinnati, OH 41017, USA.

Allergy
|November 7, 2007
PubMed

Insights

Periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is a common childhood autoinflammatory syndrome. This review details PFAPA diagnosis and differentiates it from other rare genetic periodic fever syndromes.

Area of Science:

  • Pediatrics
  • Immunology
  • Genetics

Background:

  • Periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is the most common autoinflammatory syndrome in children.
  • Unlike other periodic fever syndromes, PFAPA is not caused by a known genetic mutation.

Observation:

  • This review summarizes the literature on PFAPA, including case reports and series.
  • It highlights the importance of differentiating PFAPA from other periodic fever and autoinflammatory syndromes.
  • The review emphasizes the need for Allergy/Immunology specialists to be familiar with these conditions.

Findings:

  • PFAPA presents with recurrent fever, aphthous stomatitis, pharyngitis, and cervical adenitis.
  • Other periodic fever syndromes are typically caused by specific genetic mutations, with varying prognoses and treatments.
  • Accurate diagnosis is crucial as PFAPA management differs from genetically determined syndromes.

Implications:

  • Early and accurate diagnosis of PFAPA is essential for appropriate management and to avoid unnecessary investigations for rarer genetic disorders.
  • Allergy/Immunology specialists play a key role in the immunologic evaluation of children with recurrent fevers.
  • Increased awareness and understanding of PFAPA can improve patient outcomes and streamline diagnostic pathways.

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