Labouret M, Elhani I, Cavelot S, Dingulu G, Jouret M , et al.
Pediatric rheumatology online journal •
Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is the most common cause of autoinflammatory periodic fever in children. It is generally considered to be a self-limiting condition that resolves spontaneously over time. To evaluate age and delay to recovery of patients with PFAPA syndrome. We retrospectively reviewed the medical records of patients diagnosed with PFAPA syndrome at the Versailles Hospital (Paris, France) and included in the Juvenile Inflammatory Rheumatism (JIR) cohort between 2016 and February 2023. Recovery was defined as the absence of any febrile PFAPA episode in the past year. Patients with either no reported febrile episode or insufficient information on fever status over the last 12 months were contacted by telephone. 209 patients with PFAPA syndrome were included. Overall, 56 (27%) patients experienced resolution of periodic fever, 119 (57%) were still active and 34 (16%) patients were lost to follow-up. Among recovered patients, the median duration of symptoms was 5.43 years (Q1-Q3: 2.97–8.65) and the median age at last febrile episode was 8.34 years (Q1-Q3: 5.44–10.24). Of the 119 patients with persistent fever, 10 patients were initially declared cured but relapsed. In patients whose fever resolved, most experienced their last febrile episode before adolescence. The identification of relapses after at least 12 months without a febrile episode raises questions about the definition of recovery.
Vyzhga Y, Wittkowski H, Hentgen V, Georgin-Lavialle S, Theodoropoulou A , et al.
Pediatric rheumatology online journal •
Systemic autoinflammatory disorders (SAIDs) represent a growing spectrum of diseases characterized by dysregulation of the innate immune system. The most common pediatric autoinflammatory fever syndrome, Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA), has well defined clinical diagnostic criteria, but there is a subset of patients who do not meet these criteria and are classified as undefined autoinflammatory diseases (uAID). This project, endorsed by PRES, supported by the EMERGE fellowship program, aimed to analyze the evolution of symptoms in recurrent fevers without molecular diagnosis in the context of undifferentiated AIDs, focusing on PFAPA and syndrome of undifferentiated recurrent fever (SURF), using data from European AID registries. Data of patients with PFAPA, SURF and uSAID were collected from 3 registries including detailed epidemiological, demographic and clinical data, results of the genetic testing and additional laboratory investigations with retrospective application of the modified Marshall and PRINTO/Eurofever classification criteria on the cohort of PFAPA patients and preliminary SURF criteria on uSAID/SURF patients. Clinical presentation of PFAPA is variable and some patients did not fit the conventional PFAPA criteria and exhibit different symptoms. Some patients did not meet the criteria for either PFAPA or SURF, highlighting the heterogeneity within these groups. The study also explored potential overlaps between PFAPA and SURF/uAID, revealing that some patients exhibited symptoms characteristic of both conditions, emphasizing the need for more precise classification criteria. Patients with recurrent fevers without molecular diagnoses represent a clinically heterogeneous group. Improved classification criteria are needed for both PFAPA and SURF/uAID to accurately identify and manage these patients, ultimately improving clinical outcomes.