Ancestry, Demographic and Clinical Features of Israeli Periodic Fever Aphthous Stomatitis, Pharyngitis and Adenitis (PFAPA) Syndrome – a Multi-center Cohort

Gil Amarilyo¹, Liora Harel ², Sabreen Abu Ahmad ³, Maryam Abu Rumi ³, Riva Brik ⁴, Nofar Hezkelo ⁵, Orly Ohana ⁶, Yoel Levinsky ⁷, Gabriel Chodick ⁵ and Yonatan Butbul Aviel ⁸, ¹Schneider Hospital, Tel Aviv University, Kibbutz Magal, Israel, ²Schneider Hospital, Tel Aviv University, Petah-Tiqva, Israel, ³Ruth Rappaport Children's Hospital, Rambam Medical Center, Haifa, Israel, ⁴Haifa, Israel, ⁵Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel, Tel Aviv, Israel, ⁶Schneider Children's Medical Cener of Israel, Petach Tikva, Israel, ⁷Schneider Children's Medical Cnetr of Israel, Tel Aviv University, Petach Tikva, Israel, ⁸Rambam Medical center, Haifa, Hefa, Israel

Meeting: 2020 Pediatric Rheumatology Symposium

Keywords: Autoinflammatory Disease

Session Information

The 2020 Pediatric Rheumatology Symposium, originally scheduled for April 29 – May 2, was postponed due to COVID-19; therefore, abstracts were not presented as scheduled.

Date: Thursday, April 30, 2020

Session Title: Poster Session 1

Session Type: ACR Abstract Session

Session Time: 6:00PM-7:00PM

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.

Disclosure: G. Amarilyo, None; L. Harel, None; S. Abu Ahmad, None; M. Abu Rumi, None; R. Brik, None; N. Hezkelo, None; O. Ohana, None; Y. Levinsky, None; G. Chodick, None; Y. Butbul Aviel, None.

To cite this abstract in AMA style:

Amarilyo G, Harel L, Abu Ahmad S, Abu Rumi M, Brik R, Hezkelo N, Ohana O, Levinsky Y, Chodick G, Butbul Aviel Y. Ancestry, Demographic and Clinical Features of Israeli Periodic Fever Aphthous Stomatitis, Pharyngitis and Adenitis (PFAPA) Syndrome – a Multi-center Cohort [abstract]. Arthritis Rheumatol. 2020; 72 (suppl 4). https://acrabstracts.org/abstract/ancestry-demographic-and-clinical-features-of-israeli-periodic-fever-aphthous-stomatitis-pharyngitis-and-adenitis-pfapa-syndrome-a-multi-center-cohort/. Accessed June 25, 2022.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/ancestry-demographic-and-clinical-features-of-israeli-periodic-fever-aphthous-stomatitis-pharyngitis-and-adenitis-pfapa-syndrome-a-multi-center-cohort/