Bello Federica, Fagni Filippo, Bagni Giacomo, Hill Catherine L, Mohammad Aladdin J, Moiseev Sergey, Olivotto Iacopo, Seyahi Emire, Emmi Giacomo
Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
Department of Internal Medicine 3, Friedrich-Alexander University Erlangen-Nuremberg and Universitätsklinikum Erlangen, Erlangen, Germany.
Nat Rev Rheumatol. 2025 May 6. doi: 10.1038/s41584-025-01252-7.
Systemic vasculitis, common forms of which include anti-neutrophil cytoplasmic antibody-associated small-vessel vasculitis, large-vessel vasculitis and Behçet syndrome, are frequently complicated by arterial or venous thrombotic events (AVTEs). Newly identified entities such as DADA2 (deficiency of adenosine deaminase 2) and VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, which are driven by genetic mutations, also exhibit vasculitic features and are associated with a high risk of AVTEs. AVTEs in systemic vasculitis, including monogenic forms of vasculitis, are due to the complex interaction of inflammation and coagulation. New insights into the pathogenetic mechanisms implicate endothelial dysfunction, immune complex deposition and the interplay of pro-inflammatory cytokines with prothrombotic factors, which collectively promote thrombus formation. AVTEs impose a substantial disease burden, complicate diagnosis and negatively affect prognosis by increasing the risk of morbidity and mortality. Early diagnosis and treatment are crucial to prevent lasting damage. Management strategies should target both thrombosis and underlying inflammation. Antithrombotic therapies, including low-dose aspirin, or oral anticoagulants should be used on the basis of individual thrombotic risk assessment. Immunosuppressive therapy is the cornerstone of treatment for arterial and venous thrombosis, particularly in Behçet syndrome, in which vascular inflammation has a crucial role in thrombotic complications.
系统性血管炎，其常见形式包括抗中性粒细胞胞浆抗体相关性小血管炎、大血管炎和白塞病，常并发动脉或静脉血栓形成事件（AVTEs）。新发现的实体，如由基因突变驱动的腺苷脱氨酶2缺乏症（DADA2）和空泡、E1酶、X连锁、自身炎症、体细胞综合征（VEXAS），也表现出血管炎特征，并与高AVTEs风险相关。系统性血管炎中的AVTEs，包括单基因形式的血管炎，是炎症和凝血复杂相互作用的结果。对发病机制的新见解涉及内皮功能障碍、免疫复合物沉积以及促炎细胞因子与促血栓形成因子的相互作用，这些共同促进血栓形成。AVTEs带来了巨大的疾病负担，使诊断复杂化，并通过增加发病和死亡风险对预后产生负面影响。早期诊断和治疗对于预防永久性损伤至关重要。管理策略应针对血栓形成和潜在炎症。抗血栓治疗，包括低剂量阿司匹林或口服抗凝剂，应根据个体血栓形成风险评估使用。免疫抑制治疗是动脉和静脉血栓形成治疗的基石，特别是在白塞病中，血管炎症在血栓形成并发症中起关键作用。
