Exploring factors for predicting colchicine responsiveness in children with PFAPA

Area of Science:

• Pediatric Rheumatology
• Autoinflammatory Diseases
• Genetics

Background:

• Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome (PFAPA) is the most common autoinflammatory disorder in children.
• Colchicine is a common treatment for PFAPA, and MEFV gene variants are known predictors of response.
• However, other clinical and laboratory parameters influencing colchicine responsiveness require further investigation.

Purpose of the Study:

• To identify clinical and laboratory parameters that predict colchicine responsiveness in pediatric PFAPA patients.
• To compare PFAPA patients based on their response to colchicine treatment.

Main Methods:

• A retrospective, multicenter, cross-sectional study involving 806 pediatric patients diagnosed with PFAPA across nine rheumatology centers.
• Patients were analyzed for clinical findings, attack frequency, and MEFV gene variants (including M694V).
• Statistical analysis was performed to correlate clinical/laboratory parameters with colchicine responsiveness.

Main Results:

• Colchicine treatment was administered to 64.4% of patients, with 80.7% showing a favorable response.
• Pharyngitis, arthralgia, and increased attack frequency were associated with colchicine unresponsiveness (p<0.05).
• Carriage of the M694V variant was significantly associated with colchicine responsiveness (p=0.001).

Conclusions:

• Pharyngitis, arthralgia, and higher attack frequency predict poor response to colchicine in PFAPA.
• The M694V variant is a key predictor of successful colchicine treatment in PFAPA.
• Early prediction of treatment response can optimize PFAPA management.