Background/Purpose: Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome is an autoinflammatory disease of unknown etiology. Recently, we showed that there may be a simultaneous presentation of PFAPA and FMF. We have noted higher prevalence of PFAPA syndrome among children from Mediterranean ancestry in our clinic. Therefore, we have conducted a multi-center clinical study which aimed to identify their ancestry and compare them to patients with asthma (which has similar prevalence among Caucasian ancestries).
Methods: Medical records of PFAPA patients from 2 tertiary Israeli medical centers were reviewed between March 2014 and March 2019 with exclusion of patients with concomitant FMF. The Mediterranean group was defined as children from Arabic or Jewish Sephardic ancestry. Children who had both Mediterranean and Non- Mediterranean ancestry were defined as having multiethnic ancestry.
Results: Overall 303 PFAPA patients were included (after exclusion of 51 patients with concomitant FMF disease) and were compared to 475 asthmatic patients. Among PFAPA patients 17 (5.8%) were from Non-Mediterranean ancestry group – all were Ashkenazy Jews. 178 (58.7%) patients had pure Mediterranean ancestry and 96 (33.0%) had Multiethnic ancestry. The distribution of the asthmatic patients by ancestry was similar among the 3 groups (about third in each group). PFAPA patients were significantly more likely to be from a Mediterranean ancestry compared to asthmatic patients (P< 0.0001). In addition, Mediterranean PFAPA Patients had significantly earlier disease onset and were diagnosed earlier (P< 0.04). In all PFAPA groups there was an average of delay of about 2 years from onset to diagnosis.
Conclusion: About 60% of our PFAPA patients were of Mediterranean ancestry and only 6% were of Ashkenazy ancestry. Future studies are needed to determine the genetic background of these findings.
The post Ancestry, Demographic and Clinical Features of Israeli Periodic Fever Aphthous Stomatitis, Pharyngitis and Adenitis (PFAPA) Syndrome – a Multi-center Cohort appeared first on ACR Meeting Abstracts.