Pediatric Rheumatology and CEREMAIA, Bicêtre Hospital APHP, University of Paris Sud Saclay, Le Kremlin-Bicêtre, France.
Unit of Dermatology, DMU3ID, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, and Inflammation-Immunopathology-Biotherapy Department (DHU i2B), INSERM-UMRS 959, Sorbonne Universités, Paris, France.
Orphanet J Rare Dis. 2021 Feb 24;16(Suppl 1):352. doi: 10.1186/s13023-020-01620-4.
Behçet's disease (BD) is a systemic variable vessel vasculitis that involves the skin, mucosa, joints, eyes, arteries, veins, nervous system and gastrointestinal system, presenting with remissions and exacerbations. It is a multifactorial disease, and several triggering factors including oral cavity infections and viruses may induce inflammatory attacks in genetically susceptible individuals. BD vasculitis involves different vessel types and sizes of the vascular tree with mixed-cellular perivascular infiltrates and is often complicated by recurrent thrombosis, particularly in the venous compartment. Several new therapeutic modalities with different mechanisms of action have been studied in patients with BD. A substantial amount of new data have been published on the management of BD, especially with biologics, over the last years. These important therapeutic advances in BD have led us to propose French recommendations for the management of Behçet's disease [Protocole National de Diagnostic et de Soins de la maladie de Behçet (PNDS)]. These recommendations are divided into two parts: (1) the diagnostic process and initial assessment; (2) the therapeutic management. Thirty key points summarize the essence of the recommendations. We highlighted the main differential diagnosis of BD according to the type of clinical involvement; the role of genetics is also discussed, and we indicate the clinical presentations that must lead to the search for a genetic cause.
白塞病（BD）是一种全身性可变血管炎，涉及皮肤、黏膜、关节、眼睛、动脉、静脉、神经系统和胃肠道系统，表现为缓解和加重。它是一种多因素疾病，一些触发因素，包括口腔感染和病毒，可能会在遗传易感个体中引发炎症攻击。BD 血管炎涉及血管树的不同血管类型和大小，伴有混合细胞性血管周围浸润，常并发复发性血栓形成，特别是在静脉腔。近年来，针对 BD 患者，已经研究了几种具有不同作用机制的新治疗方法。在过去的几年中，关于 BD 的管理，尤其是生物制剂的管理，发表了大量新数据。这些在 BD 治疗方面的重要进展促使我们提出了法国对白塞病的管理建议[Behçet 病的国家诊断和治疗方案（PNDS）]。这些建议分为两部分：（1）诊断过程和初始评估；（2）治疗管理。三十个关键点总结了建议的要点。我们根据临床表现的类型突出了 BD 的主要鉴别诊断；还讨论了遗传学的作用，并指出了必须进行遗传原因搜索的临床表现。
