Differentiating PFAPA syndrome from monogenic periodic fevers.

Area of Science:

• Pediatrics
• Genetics
• Immunology

Background:

• Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is a common autoinflammatory disorder in children.
• Distinguishing PFAPA from other periodic fever syndromes is crucial for appropriate management.
• Genetic mutations in genes like MVK, TNFRSF1A, and MEFV are associated with various periodic fever syndromes.

Purpose of the Study:

• To investigate clinical differences between genetically positive and negative PFAPA patients.
• To evaluate the accuracy of the Gaslini diagnostic score in identifying PFAPA patients with a lower likelihood of relevant genetic mutations.

Main Methods:

• A cohort of 393 children with periodic fever was analyzed.
• Clinical data and genetic testing results for MVK, TNFRSF1A, and MEFV mutations were collected.
• The Gaslini diagnostic score was applied to assess its predictive accuracy.

Main Results:

• Genetically positive PFAPA patients showed higher frequencies of abdominal pain, diarrhea, vomiting, rash, and arthralgia compared to genetically negative patients.
• Genetically negative and undetermined patients had a higher frequency of exudative pharyngitis.
• The Gaslini score correctly identified 91% of genetically positive patients, with an overall accuracy of 66%.

Conclusions:

• Clinical presentation differs between genetically positive and negative PFAPA patients.
• The Gaslini diagnostic score is a valuable tool for identifying PFAPA patients at low risk for significant genetic mutations.
• Further genetic analysis may be warranted for PFAPA patients with concerning clinical features.