gms | German Medical Science

Background: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is the most common periodic fever syndrome in childhood [1]. Although considered benign, the health-related quality of life of children and families is often dramatically impacted. Timely diagnosis and effective treatment are crucial. This study aims to determine delay to diagnosis (DtD) in PFAPA and associated factors.

Methods: This ancillary study is nested in a single-center prospective study of consecutive PFAPA patients performed between 03/2021 and 02/2022. Parents of children <18years fulfilling the PFAPA classification criteria [1] received a questionnaire, capturing demographics, family history, disease characteristics and the diagnostic path with the number and type of physicians consulted prior to diagnosis and DtD, defined as time from symptom onset to diagnosis. DtD was stratified by early (≤5 years) and late (≥ 5 years) symptom onset, and population size of patients’ residence: small (<5.000), medium (>5000<20.000), large (>20.000<100.000), very large (≥100.000). Descriptive and comparative analyses were performed.

Results: 65 PFAPA patients were included, 40% females. A total of 35% had a positive PFAPA family history; median age of symptom onset was 1.6 years (0.2–9.7). Characteristic symptoms included periodic fevers lasting 3–6 days (100%), cervical lymphadenopathy (100%), and pharyngotonsillitis (89%). Median DtD was 1.3 years (0.3–11.2); 1.25 years (0.25–11.18) in those with early and 1.5 years (0.2503.00) with late symptom onset. Children with positive PFAPA family history tended (p=0.44) to be diagnosed earlier (1.1 years [0.3–3.69] versus 1.3 years [0.3–11.2]). Those living in large cities tended (p=0.17) to be diagnosed earlier: 2.0 (0.8–4.9) in small, 1.7 (0.6–3.6) in medium, 1.2 (0.3–11.2) in large and 1.0 year (0.3–1.5) in very large cities. Patients with ≤2 physician contacts prior to diagnosis were located to 50% in small, 67% in medium, 69% in large, and 89% in very large cities. Diagnosis was made predominantly by rheumatologists (83%).

Conclusion: PFAPA is a common rare disease in childhood with characteristic symptoms allowing prompt diagnosis. However, in this study diagnosis was particularly in urban regions not timely. This regional disparity highlights the importance of care partnerships for rare diseases between primary care providers and specialists.

Disclosures: JKD received grant support and speaker’s fees from Novartis and SOBI. SB has attended ad boards and has given invited presentations for Novartis, SOBI and Abbvie. ME, PW, CM, AB, SB and TW have nothing to declare.