Vol.:(0123456789) 1 3 Rheumatology International https://doi.org/10.1007/s00296-019-04478-3 COHORT STUDIES Pattern and diagnostic evaluation of systemic autoinfammatory diseases other than familial Mediterranean fever among Arab children: a multicenter study from the Pediatric Rheumatology Arab Group (PRAG) Sulaiman M. Al‑Mayouf 1  · Abdulaziz Almutairi 1  · Safya Albrawi 2  · Basil M. Fathalla 3  · Raed Alzyoud 5  · Abdullatif AlEnazi 4  · Mohammed Abu‑shukair 5  · Adel Alwahadneh 5  · Abdullah Alsonbul 1  · Mabruka Zlenti 6  · Ebtisam Khawaja 6  · Awatif Abushhaiwia 6  · Khulood Khawaja 7  · Zakiya AlMosawi 8  · Wafa Madan 8  · Muna Almuatiri 9  · Nora Almuatiri 10  · for Pediatric Arab Rheumatology Group (PRAG) Received: 8 August 2019 / Accepted: 8 November 2019 © Springer-Verlag GmbH Germany, part of Springer Nature 2019 Abstract To defne the spectrum and phenotypic characteristics of systemic autoinfammatory diseases (SAIDs) other than familial Mediterranean fever (FMF) in Arab children and to delineate diagnostic evaluation. Data retrospectively collected on patients with clinical and/or genetically proven SAIDs other than FMF at 10 tertiary Arab pediatric rheumatology clinics from 1990 to 2018. The collected data comprised the clinical fndings and diagnostic evaluation including genetic testing, the provided treatment and the accrual damage related to SAIDs. A total of 144 patients (93 female) with a median age at onset of 2.5 (range 0.1–12) years were enrolled. The initial diagnosis was inaccurate in 49.3%. Consanguinity rate among parents was 74.6%. The median time-to-diagnosis for all SAIDs was 2.5 (range 0.1–10) years. There were 104 patients (72.2%) with a confrmed diagnosis and 40 patients with suspected SAIDs. Seventy-two had monogenic and 66 patients with multifactorial SAIDs while six patients had undiferentiated SAIDs. The most frequent monogenic SAIDs were LACC1 mediated mono- genic disorders (n = 23) followed by CAPS (12), TRAPS (12), HIDS (12), and Majeed’s syndrome (6). The most frequent multifactorial SAIDs was CRMO (34), followed by PFAPA (18), and early onset sarcoidosis (EOS) (14). Genetic analysis was performed in 69 patients; 50 patients had genetically confrmed disease. Corticosteroid used for 93 patients while biologic agents for 96 patients. Overall, growth failure was the most frequent accrual damage (36%), followed by cognitive impair- ment (13%). There were three deaths because of infection. This study shows a heterogenous spectrum of SAIDs with a high number of genetically confrmed monogenic diseases; notably, LACC1 associated diseases. Hopefully, this work will be the frst step for a prospective registry for SAIDs in Arab countries. Keywords Autoinfammatory diseases · Familial mediterranean fever · CAPS · TRAPS · LACC1 · Arabs Rheumatology INTERNATIONAL * Sulaiman M. Al-Mayouf mayouf@kfshrc.edu.sa 1 Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Alfaisal University, Po Box 3354, Riyadh 11211, Saudi Arabia 2 Royal Hospital, Muscat, Oman 3 Al Jalila Children’s Specialty Hospital, Dubai, United Arab Emirates 4 King Fahad Medical City, Riyadh, Saudi Arabia 5 Queen Rania Children Hospital, Amman, Jordan 6 Tripoli Children Hospital, Tripoli, Libya 7 Al-Mafraq Hospital, Abu Dhabi, United Arab Emirates 8 Salmaniya Medical Complex, Manama, Bahrain 9 Adan Hospital, Hadiya, Kuwait 10 AlSabah Hospital, Al Asimah, Kuwait