Awareness and Knowledge of PFAPA Syndrome and Familial Mediterranean Fever Among Pediatricians: A Questionnaire-based Study

Insights into Knowledge, Attitudes, and Clinical Practice Regarding PFAPA and FMF

Abstract

Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) and familial Mediterranean fever (FMF) are the most frequent recurrent fever syndromes in children. Both cause episodic inflammatory flares, and appropriate management markedly improves quality of life. Given the limited data on physicians’ awareness of these conditions in Türkiye, this study aimed to evaluate the knowledge and attitudes of pediatric specialists and residents regarding PFAPA syndrome and FMF. An online questionnaire consisting of Likert scale and multiple-choice items assessing clinical features, diagnostic approaches, treatment practices, and demographic characteristics was administered. A total of 306 participants were included: 59.5% were women, 40.8% were pediatricians, and 52.9% were employed at university hospitals. The clinical features most commonly considered when diagnosing PFAPA were fever (frequency and duration, 85%), sore throat (58.5%), aphthous ulcers (56.9%), and cervical lymphadenopathy (54.6%). Sixty percent of participants stated that PFAPA can be diagnosed clinically, and participants showed high awareness of treatment options, such as corticosteroids (89.2%) and tonsillectomy (85.9%). In FMF, recurrent fever (97%), abdominal pain (93.8%), and arthritis (76.1%) were well-recognized features, whereas awareness of less common symptoms was lower. While 84% acknowledged the diagnostic importance of MEFV mutations, only half knew the appropriate timing for genetic testing. Most participants recognized colchicine as the first-line treatment for FMF, and 78.4% were aware of the use of biologic agents in colchicine-resistant cases. In conclusion, this study is one of the few nationwide assessments of pediatricians’ awareness of PFAPA and FMF in Türkiye. Although overall awareness was high, important gaps remain in the recognition of atypical clinical features and the appropriate use of genetic testing, underscoring the need for targeted educational initiatives to support early diagnosis and timely treatment.