FRI0552 PERFORMANCE OF NEWLY PROPOSED PERIODIC FEVER, APHTHOUS STOMATITIS, PHARYNGITIS AND CERVICAL ADENITIS (PFAPA) SYNDROME CRITERIA IN REGIONS ENDEMIC FOR FAMILLIAL MEDITERRANEAN FEVER (FMF)

Abstract

Background The periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is an autoinflammatory condition characterized by regularly recurrent episodes of high fever lasting 3 to 6 accompanied by aphthosis, cervical adenitis, and pharyngitis, in the absence of upper respiratory tract infections. A relevant number of patients with monogenic periodic fevers also meet the diagnostic criteria for PFAPA syndrome. Especially in regions endemic for familial Mediterranean fever (FMF), it would be important to avoid useless genetic testing and to be able to identify PFAPA patients by using clinical classification criteria. Despite the high specificity, widely used Marshall’s criteria have been shown to have low specificity. An international consensus among experts has been established recently, in order to define a set of classification criteria for PFAPA syndrome with a better performance in term of sensitivity and specificity. Objectives We aimed to evaluate the performance of recently proposed PFAPA criteria, in order to assess their utility in regions endemic for FMF. Methods Patients diagnosed with PFAPA syndrome, FMF and juvenile idiopathic arthritis (JIA) were consecutively included in the study. PFAPA diagnosis has been established by Marshall’s criteria. Patients with FMF and JIA were diagnosed according to Turkish pediatric FMF criteria and ILAR criteria, respectively. Two investigators blindly evaluated all of patients for the newly proposed PFAPA criteria. Results A total of 321 PFAPA, 118 FMF and 45 JIA patients with mean age of 7.23±2.9, 14.7±3.09, 13.5±4.6 years, respectively, were included in the study. A 45% (146/323) of PFAPA, 50% (59/118) of FMF and 58% (23/45) of JIA patients were female. We found quite high sensitivity (90%) of newly proposed PFAPA criteria: 289 out of 321 (90%) patients followed up as PFAPA syndrome fulfilled newly proposed PFAPA criteria, as well. When applied to patients diagnosed with FMF and JIA, 46 out of 118 (39%) FMF and 10 out of 45 (22%) JIA patients also fulfilled newly proposed PFAPA criteria. Specificity of recently proposed PFAPA criteria was found to be 61% and 77%, among FMF and JIA patients, respectively. Positive predictive value was 86% and 97%, negative predictive value was 69% and 50% for FMF and JIA patients, respectively. Conclusion Recently proposed PFAPA criteria have satisfactory high sensitivity. Specificity of recently proposed criteria is still under expectation in regions endemic for FMF. Multicentric studies with higher patients’ number in different regions are needed in order to provide more relevant data on performance of newly proposed PFAPA criteria.