Abstract
BACKGROUND AND OBJECTIVE: Published data from Saudi Arabia regarding autoinflammatory diseases are scarce. In this study, we describe the clinical and laboratory features of autoinflammatory diseases in Saudi children.
DESIGN AND SETTING: Restrospective, hospital-based study conducted from January 2010 until June 2010.
PATIENTS AND METHODS: Patients with autoinflammatory disease treated at the Pediatric Rheumatology Clinic at King Faisal Specialist Hospital and Research Center, Riyadh, over the past 10 years were included. Autoinflammatory diseases included the following: familial Mediterranean fever (FMF); chronic recurrent multifocal osteomyelitis (CRMO); early-onset sarcoidosis (EOS); periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA); chronic infantile neurologic cutaneous and articular syndrome (CINCA); and Muckle-Wells syndrome (MWS). Demographic characteristics, diagnosis, age at onset, disease duration, follow-up duration, clinical and laboratory variables, and outcome data were compiled. Gathered laboratory data were part of patients' usual medical care.
RESULTS: Thirty-four patients (females, 53%) with autoinflammatory diseases were included (mean age, 151 months. Mean disease duration was 118 months; mean age at onset was 32 months; consanguinity was present in 40%. Patients were diagnosed as follows: FMF, 50%; CRMO, 23.5%; CINCA, 8.8%; EOS, 8.8%; MWS, 6%; and PFAPA, 2.9%. The referral diagnosis was inaccurate in all patients except for FMF patients. Gene study was informative in 9 of 14 FMF patients who had molecular analyses. None of our cohort had amyloidosis. All CRMO patients had a favorable response to treatment except 1 patient, who had refractory, progressive disease. All patients with EOS had multiorgan involvement, including uveitis. All CINCA patients had a favorable response to anakinra.
CONCLUSION: Our report shows that autoinflammatory diseases other than FMF may be overlooked. Increased awareness among pediatricians about these conditions will help to provide better health care to patients in the form of early diagnosis and management.