Division of Rheumatology, New York University School of Medicine, New York, NY, USA.
Division of Rheumatology, Department of Internal Medicine and Behçet's Disease Research Center, Istanbul University - Cerrahpasa, Istanbul, Turkey.
Nat Rev Dis Primers. 2021 Sep 16;7(1):67. doi: 10.1038/s41572-021-00301-1.
Behçet syndrome is a systemic vasculitis with an unknown aetiology affecting the small and large vessels of the venous and arterial systems. The presence of symptom clusters, regional differences in disease expression and similarities with, for example, Crohn's disease suggest that multiple pathological pathways are involved in Behçet syndrome. These disease features also make formulating disease criteria difficult. Genetic studies have identified HLA-B51 as a genetic risk factor. However, the low prevalence of HLA-B51 in many patients with bona fide disease, especially in non-endemic regions, suggests that other factors must also be operative in Behçet syndrome. Despite lacking a clear aetiological mechanism and definition, management of manifestations that include major vascular disease, eye disease and central nervous system involvement has improved with the help of new technology. Furthermore, even with our incomplete understanding of disease mechanisms, the prognoses of patients with Behçet syndrome, including those with eye disease, continue to improve. New treatment options and a better understanding of the underlying pathogenesis for various manifestations of this condition are required to further improve the management of the disease, which will improve patient quality of life.
白塞病是一种病因不明的系统性血管炎，影响静脉和动脉系统的小血管和大血管。症状群的存在、疾病表现的区域性差异以及与克罗恩病等疾病的相似性表明，白塞病涉及多种病理途径。这些疾病特征也使得制定疾病标准变得困难。遗传研究已经确定 HLA-B51 是遗传危险因素。然而，许多真正患有白塞病的患者，尤其是在非流行地区，HLA-B51 的患病率较低，这表明白塞病还涉及其他因素。尽管缺乏明确的病因机制和定义，但在新技术的帮助下，包括大血管疾病、眼病和中枢神经系统受累在内的表现的治疗得到了改善。此外，即使我们对白塞病的发病机制了解不完整，包括眼病患者在内的白塞病患者的预后仍在不断改善。需要新的治疗选择和对该疾病各种表现的潜在发病机制的更好理解，以进一步改善疾病的管理，从而提高患者的生活质量。
