What is the initial workup and treatment for a patient with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis (PFAPA) syndrome?

Initial Workup and Treatment for PFAPA Syndrome

Tonsillectomy should be considered as a definitive treatment option for patients with PFAPA (Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Adenitis) syndrome, particularly when symptoms significantly impact quality of life. 1

Diagnostic Criteria and Initial Evaluation

• PFAPA syndrome is characterized by recurrent episodes of fever associated with pharyngitis, aphthous stomatitis, and cervical adenitis, though not all features need to be present at initial evaluation 2
• Typical episodes last 4-5 days and recur every 3-6 weeks (median 30 days) 3, 4
• Fever typically reaches high temperatures (around 40.5°C) during episodes 4
• Diagnosis is primarily clinical as there are no specific biomarkers available 2
• The syndrome typically affects children under 5 years of age but can rarely occur in adults 2, 5

Diagnostic Workup

• Rule out other causes of recurrent fever through:
  • Complete blood count with differential during and between episodes 5
  • Inflammatory markers (ESR, CRP) during and between episodes 5
  • Throat culture to rule out Group A Streptococcal infection 1
  • Consider testing for other periodic fever syndromes if atypical features are present 5
• Anti-streptococcal antibody titers are not recommended for diagnosis as they reflect past rather than current events 1
• Diagnostic testing of asymptomatic household contacts is not routinely recommended 1

Treatment Options

First-line Treatment:

• Glucocorticoids: A single dose of prednisone or prednisolone at the onset of symptoms provides rapid symptomatic relief 3, 4
  • Note: Some patients may experience more frequent episodes for a short period after steroid treatment before returning to their usual pattern 3

Second-line/Alternative Treatments:

• Tonsillectomy: Should be considered for patients with:
  • Persistent symptoms despite medical management 1
  • Significant impact on quality of life 1
  • History of more than one peritonsillar abscess 6
• Colchicine: May be effective as prophylaxis to decrease flare frequency, particularly in adult-onset PFAPA 2
• Cimetidine: Alternative treatment option that has shown effectiveness in some cases 5, 4

Special Considerations

• PFAPA syndrome is typically benign with no long-term sequelae 5, 4
• The syndrome may resolve spontaneously over time in some children, while in others it persists with decreasing frequency of episodes 4
• Atypical symptoms that may occasionally occur include:
  • Abdominal pain 3
  • Nausea/vomiting 3, 5
  • Arthralgia 3
  • Headache 5

Follow-up Recommendations

• Regular monitoring of episode frequency and severity 4
• Reassessment of treatment effectiveness 4
• Patient/family education about the benign nature of the condition 3
• No need for routine post-treatment throat cultures 1

Treatment Algorithm

1. Confirm diagnosis based on clinical criteria
2. Start with single-dose glucocorticoids at episode onset
3. If episodes are frequent and severely impact quality of life, consider:
   • Tonsillectomy for definitive treatment
   • OR prophylactic therapy with colchicine or cimetidine
4. Provide reassurance about the benign nature and eventual resolution of the syndrome 3, 4