1. Pattern and diagnostic evaluation of systemic autoinflammatory diseases other than familial Mediterranean fever among Arab children: a multicenter study from the Pediatric Rheumatology Arab Group (PRAG).
- Author
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Al-Mayouf SM, Almutairi A, Albrawi S, Fathalla BM, Alzyoud R, AlEnazi A, Abu-Shukair M, Alwahadneh A, Alsonbul A, Zlenti M, Khawaja E, Abushhaiwia A, Khawaja K, AlMosawi Z, Madan W, Almuatiri M, and Almuatiri N
- Subjects
- Acne Vulgaris diagnosis, Acne Vulgaris drug therapy, Acne Vulgaris epidemiology, Acne Vulgaris physiopathology, Adolescent, Anemia, Dyserythropoietic, Congenital diagnosis, Anemia, Dyserythropoietic, Congenital drug therapy, Anemia, Dyserythropoietic, Congenital epidemiology, Anemia, Dyserythropoietic, Congenital physiopathology, Antirheumatic Agents therapeutic use, Arabs, Arthritis diagnosis, Arthritis drug therapy, Arthritis epidemiology, Arthritis physiopathology, Arthritis, Infectious diagnosis, Arthritis, Infectious drug therapy, Arthritis, Infectious epidemiology, Arthritis, Infectious physiopathology, Arthritis, Juvenile drug therapy, Arthritis, Juvenile epidemiology, Arthritis, Juvenile genetics, Arthritis, Juvenile physiopathology, Bahrain epidemiology, Child, Child, Preschool, Consanguinity, Crohn Disease drug therapy, Crohn Disease epidemiology, Crohn Disease genetics, Crohn Disease physiopathology, Cross-Sectional Studies, Cryopyrin-Associated Periodic Syndromes diagnosis, Cryopyrin-Associated Periodic Syndromes drug therapy, Cryopyrin-Associated Periodic Syndromes epidemiology, Cryopyrin-Associated Periodic Syndromes physiopathology, Diagnostic Errors, Female, Fever diagnosis, Fever drug therapy, Fever epidemiology, Fever physiopathology, Hereditary Autoinflammatory Diseases drug therapy, Hereditary Autoinflammatory Diseases physiopathology, Humans, Immunologic Deficiency Syndromes diagnosis, Immunologic Deficiency Syndromes drug therapy, Immunologic Deficiency Syndromes epidemiology, Immunologic Deficiency Syndromes physiopathology, Infant, Intracellular Signaling Peptides and Proteins genetics, Jordan epidemiology, Kuwait epidemiology, Libya epidemiology, Male, Mevalonate Kinase Deficiency diagnosis, Mevalonate Kinase Deficiency drug therapy, Mevalonate Kinase Deficiency epidemiology, Mevalonate Kinase Deficiency physiopathology, Oman epidemiology, Osteomyelitis diagnosis, Osteomyelitis drug therapy, Osteomyelitis epidemiology, Osteomyelitis physiopathology, Pyoderma Gangrenosum diagnosis, Pyoderma Gangrenosum drug therapy, Pyoderma Gangrenosum epidemiology, Pyoderma Gangrenosum physiopathology, Retrospective Studies, Sarcoidosis diagnosis, Sarcoidosis drug therapy, Sarcoidosis epidemiology, Sarcoidosis physiopathology, Saudi Arabia epidemiology, Synovitis diagnosis, Synovitis drug therapy, Synovitis epidemiology, Synovitis physiopathology, United Arab Emirates epidemiology, Uveitis diagnosis, Uveitis drug therapy, Uveitis epidemiology, Uveitis physiopathology, Hereditary Autoinflammatory Diseases diagnosis, Hereditary Autoinflammatory Diseases epidemiology
- Abstract
To define the spectrum and phenotypic characteristics of systemic autoinflammatory 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 findings 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 confirmed diagnosis and 40 patients with suspected SAIDs. Seventy-two had monogenic and 66 patients with multifactorial SAIDs while six patients had undifferentiated SAIDs. The most frequent monogenic SAIDs were LACC1 mediated monogenic disorders (nā=ā23) 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 confirmed 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 impairment (13%). There were three deaths because of infection. This study shows a heterogenous spectrum of SAIDs with a high number of genetically confirmed monogenic diseases; notably, LACC1 associated diseases. Hopefully, this work will be the first step for a prospective registry for SAIDs in Arab countries.
- Published
- 2020
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