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

The initial workup for PFAPA syndrome should include a thorough clinical assessment for the characteristic features of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis, with treatment focused on corticosteroids for acute episodes and consideration of tonsillectomy for recurrent cases.

Diagnostic Approach

Clinical Criteria for Diagnosis

• PFAPA syndrome is characterized by regularly recurring episodes of fever associated with aphthous stomatitis, pharyngitis, and cervical adenitis 1
• Typical presentation includes fever episodes lasting 4-5 days that recur every 3-6 weeks 2
• Diagnosis is primarily clinical as there are no specific biomarkers available 3

Initial Evaluation

• Document pattern of fever episodes, including duration, frequency, and associated symptoms 2
• Assess for presence of key clinical features:
  • High fever (typically around 40.5°C) 2
  • Pharyngitis (present in ~90% of cases) 4
  • Cervical adenitis (present in ~72% of cases) 4
  • Aphthous stomatitis (present in ~71% of cases) 4
• Note that not all clinical features may be present at initial evaluation 3

Laboratory Testing

• No specific diagnostic tests exist for PFAPA syndrome 3
• Laboratory workup should focus on ruling out other causes of periodic fever:
  • Complete blood count during episodes may show leukocytosis 4
  • Inflammatory markers (ESR, CRP) are typically elevated during episodes 2
  • Throat cultures to rule out Group A Streptococcal infection 1
  • Consider testing for other periodic fever syndromes if clinical picture is atypical 4

Treatment Approach

Acute Episode Management

• Single dose of oral corticosteroids (prednisone) at onset of symptoms provides rapid symptomatic relief 5, 2
• Corticosteroids are highly effective in controlling symptoms but may shorten the interval between episodes in some patients 5
• Analgesics/antipyretics (acetaminophen or ibuprofen) can be used for symptom management 1

Prophylactic Options

• Colchicine may be effective in reducing frequency of episodes, particularly in cases where steroids are not preferred 3
• Cimetidine has shown some benefit in a small number of patients 2

Surgical Management

• Tonsillectomy should be considered for patients with recurrent PFAPA episodes, especially those with history of >1 peritonsillar abscess 1
• The American Academy of Otolaryngology recognizes PFAPA as a modifying factor that may favor tonsillectomy even when standard criteria for recurrent throat infections are not met 1
• Tonsillectomy has been associated with complete resolution of symptoms in many cases 6

Clinical Course and Follow-up

• PFAPA is generally a benign condition with no long-term sequelae 4, 2
• Episodes may become less frequent over time 2
• Spontaneous resolution occurs in many children, typically by age 10 3
• Regular follow-up is recommended to monitor frequency and severity of episodes 2

Special Considerations

• PFAPA is primarily a pediatric condition with onset typically before age 5 years 4
• Adult-onset PFAPA is rare but should be considered in the differential diagnosis of periodic fevers in adults 3
• Patients are typically symptom-free and grow normally between episodes 6
• Reassurance to families about the benign nature of the condition is important 5