Jachiet Vincent, Comont Thibault, Kosmider Olivier, Zhao Lin Pierre, Mekinian Arsène, Fain Olivier, Hadjadj Jérome
Sorbonne Université, service de médecine interne, hôpital Saint-Antoine, AP-HP, Paris, France.
Service de médecine interne IUCT-Oncopole, CHU de Toulouse, université Paul-Sabatier, Toulouse, France.
Rev Prat. 2025 Feb;75(2):196-200.
VEXAS SYNDROME. VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a recently described autoinflammatory syndrome, mostly affecting men above 50 years, caused by somatic mutation in the X-linked UBA1 gene. Patients present a broad spectrum of inflammatory manifestations (fever, neutrophilic dermatosis, chondritis, pulmonary infiltrates, ocular inflammation, venous thrombosis) with hematological involvement (macrocytic anemia, thrombocytopenia, vacuoles in myeloid and erythroid precursor cells, dysplastic bone marrow) which are responsible for significant morbidity and mortality. The therapeutic management is currently poorly codified, and based on two main approaches: controlling inflammatory symptoms by using corticosteroids, JAK inhibitors or tocilizumab, or targeting the UBA1-mutated hematopoietic population using azacitidine or allogeneic hematopoietic stem cell transplantation.
VEXAS综合征。VEXAS（空泡、E1酶、X连锁、自身炎症性、体细胞）综合征是一种最近被描述的自身炎症性综合征，主要影响50岁以上男性，由X连锁UBA1基因的体细胞突变引起。患者表现出广泛的炎症表现（发热、嗜中性皮病、软骨炎、肺部浸润、眼部炎症、静脉血栓形成）以及血液系统受累（大细胞贫血、血小板减少、髓系和红系前体细胞中的空泡、发育异常的骨髓），这些导致了显著的发病率和死亡率。目前治疗管理的规范程度较低，基于两种主要方法：使用皮质类固醇、JAK抑制剂或托珠单抗控制炎症症状，或使用阿扎胞苷或异基因造血干细胞移植靶向UBA1突变的造血群体。
