PFAPA syndrome (periodic fever, aphthous stomatitis, pharyngitis, adenitis) is the commonest periodic fever syndrome of childhood, with unknown cause, and no genetic mutation.

Onset typically before age 5; boys slightly more affected; resolves spontaneously in most within 4 to 8 years.
Fevers last 3 to 6 days and recur every 3 to 8 weeks with regularity.
Not infectious; normal growth and well between attacks.
Adult onset cases occur.

Clinical criteria: periodic fever from early age (under 5), constitutional symptoms with one of the three signs, exclusion of cyclic neutropenia, complete asymptomatic intervals, normal growth.
During attacks: raised CRP, ESR, leucocytosis; negative throat cultures, rapid strep test.
Exclude cyclic neutropenia (twice-weekly blood counts for 6 weeks), immunodeficiency, monogenic periodic fever (MKD, FMF, TRAPS) when atypical features (rash, abdominal pain, arthritis, family history).
Genetic panel if atypical.

Single dose prednisolone 1 to 2 mg/kg (maximum 60 mg) at onset of fever, resolving symptoms within hours in over 90% (a positive response supports the diagnosis); may shorten the interval between attacks.
Cimetidine 20 to 40 mg/kg/day divided twice daily as prophylaxis (works in 30%); colchicine 0.5 to 1 mg daily to reduce frequency.
Tonsillectomy (with or without adenoidectomy) is curative in approximately 60 to 90% and recommended in children with frequent, disruptive attacks unresponsive to medical measures.
Anakinra 1 to 2 mg/kg is reserved for refractory cases.
Reassure families regarding the benign self-limited course; avoid repeated antibiotics.
Adult PFAPA: steroids, colchicine, tonsillectomy, IL-1 blockade.
Monitor growth and development.

PFAPA Syndrome

Overview

Clinical Features

Diagnosis

Management