PFAPA syndrome: new clinical aspects disclosed

Background

The recently described PFAPA (Periodic Fever, Aphthous stomatitis, Pharyngitis and Adenitis) syndrome is characterised by periodic fever, aphthous stomatitis, pharyngitis and adenitis. However, there are currently relatively few data on the natural history of this syndrome.

Objective

To describe the presentation, clinical course, doctors'' awareness, therapeutic response and long‐term follow‐up of children with PFAPA syndrome.

Methods

Children with PFAPA syndrome referred over a 5‐year period (from January 1999 to January 2004) were enrolled in the study. Data were gathered from medical records, parents'' interviews, physical examination and telephone calls.

Results

54 patients with PFAPA syndrome were evaluated. Our patients had a higher rate of abdominal pain (65%) and a lower rate of aphthous stomatitis (39%) than those in previous reports. Four different patterns of disease evolution were identified, including the relatively common (n = 14, 26%) and newly described course of alternating remissions and relapses. The remissions lasted 8.5 months on average (range 4–36 months). Diagnosis was established by primary paediatricians in 30 of 54 (56%) patients. However, a substantial delay in diagnosis was apparent (mean 15 months). Episodes were curtailed by a much lower dose of prednisone or equivalent corticosteroid (mean 0.6 mg/kg/day, range 0.15–1.5 mg/kg/day) than reported previously. Tonsillectomy was successful in the prevention of recurrence of further episodes in all six patients who underwent the procedure.

Conclusions

We describe several new characteristics of PFAPA syndrome in children, contributing to our knowledge of this relatively unrecognised but troublesome syndrome. Early diagnosis and appropriate treatment can markedly improve the quality of life of both patients and families.PFAPA (Periodic Fever, Aphthous stomatitis, Pharyngitis and Adenitis) syndrome is characterised by recurrent episodes of fever associated with cervical adenitis, pharyngitis and aphthous stomatitis. The disease belongs to the group of periodic fever syndromes characterised by short episodes of illness that recur regularly for several years, alternating with healthy periods. The syndrome was first described in 1987¹ and the acronym PFAPA was subsequently coined in 1989.² Currently, most of the information gathered about the syndrome is based on only a few reports.^1,2,3,4This study was undertaken to investigate the epidemiological data, clinical course and long‐term follow‐up of children with PFAPA syndrome in central Israel. We were especially interested in aspects that were not described in previous reports, such as doctors'' awareness of the syndrome, adherence to corticosteroid treatment, effective corticosteroid dosage, unique side effects of corticosteroid treatment and a possible correlation between childcare attendance and occurrence of PFAPA syndrome.