Behçet's syndrome: a critical digest of the 2013-2014 literature

This review focuses on the recent research on the epidemiology, outcome measures, immunopathogenesis, genetics, clinical manifestations and management of Behçet's syndrome (BS). A systematic review of outcomes and outcome measures used in BS points out to a need for reliable and validated outcome measures that would be widely used by researchers. Despite novel methods of analyses and cheaper and more sophisticated technologies are yielding new genetic associations and molecular pathways in BS, HLA-B51 still shows the strongest link. The MHC class I amino acid residues, GIMAP, the neuromodulin pathway, complement component copy variations, microRNA polymorphisms and DNA methylation abnormalities are examples. IL-27, 33 and 37 may also play important roles in the pathogenesis. Clinical studies have shown that the fluorescein angiography scoring system could be a useful tool to discern active inflammation in eye disease from the quiescent phase, the cumulative risk for recurrence of any vascular event was 38% at 5 years in a large vascular cohort and significant correlations between dural sinus thrombosis and pulmonary artery involvement, a retrospective survey of patients with parenchymal NBS revealed a 30% relapse rate and 10% mortality of 10% after a median follow-up of 73 months, and quantitative measurement of the brainstem atrophy using MRI was correlated with clinical symptoms. Studies on the management of BS showed that continuous use of colchicine may not prevent the development of organ involvement at the long-term, remission of uveitis may persist after withdrawal of infliximab, refractory intestinal involvement may respond to infliximab, immunosuppressive treatment is important in reducing complications of endovascular stent grafting for aortic pseudoaneurysm and intravitreal steroid implants or injections may be considered in refractory uveitis.