Clinical features and diagnosis of PFAPA syndrome: approach of the primary care physician

Introduction
Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA), described for the first time in 1987 by Marshall, is an inflammatory disease that is characterized by febrile episodes with a specific symptoms. PFAPA syndrome is the most frequent among autoinflammatory diseases. The purpose of this study was to evaluate the clinical features of PFAPA syndrome in children in Western Ukraine and its timely diagnosis by the primary care physicians.

Material and methods
The medical records of 28 children with PFAPA syndrome referred to the inpatient and outpatient departments of Ternopil Regional Children’s hospital (tertiary pediatric care hospital) between 2015 and 2020 were reviewed.

Results
The mean age of disease onset was 2.9 ±1.5 years, ranged from 1 to 6 years.The disease occurred more often in male (71.4%, p = 0.0013). Besides fever, the majority of patients were presented with pharyngitis (100%), adenitis (64.3%) and aphtous stomatitis (53.6%). The effectiveness of steroid drugs occurred in all patients: in 25 (89.3%) – full response, in 3 (10.7%) – partial response. Tonsillectomy was performed in 2 cases (7.1%) and only in one of them PFAPA symptoms have passed. PFAPA syndrome was diagnosed 1.2 ±0.5 years from the onset of the first symptoms, mainly by the specialists of tertiary pediatric care.

Conclusions
The combination of recurrent fever with pharyngitis, adenitis, and aphthous stomatitis may be a clue to the suspicion of PFAPA by primary care physicians who need to seek professional help to rule out other (genetic, metabolic, self-inflammatory, etc.) causes, as this diagnosis is an exclusion diagnosis. There is a need to raise awareness among primary care physicians about PFAPA, which can improve timely diagnosis and treatment, and avoid unnecessary testing and treatment.