Background/Purpose: Behet’s disease (BD) is a rare systemic inflammatory disease with nonspecific clinical presentation that can mimic infections, tumors and other diseases. Diagnostic delay of several years is common. In 2016, classification criteria were published based on a prospective observational cohort (PEDBD²). The aim was to describe clinical characteristics and outcome of children and adolescents with initial diagnostic of BD attending a tertiary rheumatology center.

Methods: Retrospective analysis of medical records of patients under 18 years of age, attending Pediatric Rheumatology and Rheumatology Clinics, Ribeir‹o Preto Medical School Hospital, University of S‹o Paulo, from December 2000 to January 2015, whose initial diagnosis was BD.

Results: During the study period, a diagnosis of BD was suggested for 19 patients in the first evaluation, 11 female (57.9%), mean age 12 years (3 to 17 years). Thirteen of the patients (68.4%) maintained the diagnosis of BD until the last visit (mean follow-up 5 years – 1 to 10 years) and were on specific treatment: corticosteroid (77%), colchicine (30.8%), methotrexate (23%), cyclophosphamide (23%), azathioprine (15.4%) and chlorambucil (1%). Recurrent oral ulcers (89.5%), fever (84.2%), genital ulcers (63%), uveitis (21%), acneiform lesion/necrotizing folliculitis (37%), erythema nodosum  (10.5%) and optic neuritis (5%) were the main symptoms. Cranial angiography was performed in 8 (42%) patients, allowing the diagnosis of Neuro-Behet in 4 (21%). ANA and cANCA were negative in 17/19 and 12/19 patients respectively. aPL were detected in 6/13 patients (46%). Acute-phase protein levels were elevated in 79% of patients. Secondary antiphospholipid antibody syndrome was diagnosed in 2 patients – one with extensive dural venous sinuses and intracardiac thrombosis, other with ischemic stroke. Six patients (31.6%) with initial diagnosis of BD met diagnostic criteria for other diseases on the follow-up: two cases of periodic fever, adenitis, pharyngitis, aphtous stomatitis (PFAPA), and one case each of high-grade glioma, T-cell lymphoma, common variable hypogammaglobulinemia, ganglionar tuberculosis. The time for definitive diagnosis ranged from 2 months to 5 years, mean 17 months. At the time of presentation, PEDBD classification criteria were fulfilled in 7/13 patients (54%) that maintained BD diagnosis and in 3/6 patients with other diagnosis on follow-up.

Conclusion: Behet’s disease is a challenging diagnosis and in some cases it can only be made after a follow-up period. The new pediatric BD classification criteria should be used with caution for clinical diagnosis.

1. Criteria for diagnosis of Behcet’s disease. International Study Group for Behcet’s Disease. Lancet, 1990. 335(8697): p. 1078-80; 2. Kone-Paut, I., et al., Consensus classification criteria for paediatric Behcet’s disease from a prospective observational cohort: PEDBD. Ann Rheum Dis, 2016. 75(6): p. 958-64.