P3.269: Caregiver Perspectives on the Diagnosis, Management, and Family Impact of Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis syndrome

Background: Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome (PFAPA) is a rare, self-resolving, under-recognized autoinflammatory condition impacting young children. Although multiple treatment options exist for PFAPA, there are no evidence-based consensus treatment guidelines. Treatment efficacy and outcomes data are also limited. Our study aims to describe the epidemiology, diagnostic and treatment approach, family impacts, and outcomes of children with PFAPA from the perspective of their caregivers.

Methods: We performed a cross-sectional study using a one-time descriptive survey targeted toward caregivers of children diagnosed with PFAPA. Department of Defense beneficiaries diagnosed with PFAPA between ages 0-18 years and cared for by a U.S. Military Pediatric Infectious Disease physician at two large Military Treatment Facilities between 2012 and 2023 were included. Parents and caregivers of these patients were contacted via telephone and invited to participate in the survey.

Results: Twenty-two children were identified with a PFAPA diagnosis. Parents or caregivers for 10 (45.4%) of these patients completed the survey. Seven (70%) of the patients were less than 48 months old when PFAPA symptoms began. For 8 (80%) patients a PFAPA diagnosis required more than 4 healthcare visits and took greater than a year from symptom onset. Most patients (70%) were prescribed corticosteroids to help diagnose PFAPA and 4 (40%) underwent tonsillectomy resulting in immediate cessation of fever episodes for 3 of the 4. At the time of the survey 70% of children with PFAPA had experienced resolution of their fever episodes. This resolution was sudden after tonsillectomy, and for others was gradual and characterized by less frequent and less severe febrile episodes. Nearly every participant stated that PFAPA led to missed school and workdays. Half of respondents stated that PFAPA negatively impacted their child’s mental health and/or family well-being. Half of respondents also felt dismissed in their concerns about frequent fevers and wished more providers were knowledgeable about PFAPA.

Conclusion: For most children with PFAPA, diagnosis requires more than 4 healthcare visits and over a year of time. PFAPA is self-limited but poorly impacts families through missed school, missed workdays, and other family life disruptions. Caregivers of children with PFAPA want to be heard, and not dismissed, when they express concerns about frequent fever episodes. They wish more providers were aware of PFAPA and available treatment options.