Geng Xin, Yang Yang, Zhang Ai-Guo, Chen Bao-An
Department of Hematology, Lianshui People's Hospital, Lianshui 223400, Jiangsu Province, China.
Department of Hematology, Zhongda Hospital Affiliated to Southeast University, Nanjing 210009, Jiangsu Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2024 Dec;32(6):1933-1936. doi: 10.19746/j.cnki.issn.1009-2137.2024.06.046.
Vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome (VEXAS) is a recently discovered adult-onset autoinflammatory syndrome characterized by methionine somatic mutations affecting the activation of ubiquitin system in the X-linked gene . Patients present with a wide range of inflammatory manifestations (fever, neutrophil dermatosis, chondritis, pulmonary infiltrates, ocular inflammation, venous thrombosis) and hematological impairment (giant cell anemia, thrombocytopenia, bone marrow and pre-erythrocyte vacuoles, bone marrow dysplasia), consequently contributing to significant morbidity and mortality. Current treatment management method is not well developed, and the main existing therapies are aimed at controlling inflammatory symptoms or targeting mutations. Symptomatic supportive care includes control risk factors (such as infection and thrombosis), component transfusion, and use of hematopoietic drugs. This review aims to summarize new advances of the pathogenesis, clinical manifestations and treatment of this disease in the past two years.
空泡、E1酶、X连锁、自身炎症性和体细胞综合征（VEXAS）是一种最近发现的成人起病的自身炎症性综合征，其特征为甲硫氨酸体细胞突变影响X连锁基因中泛素系统的激活。患者表现出广泛的炎症表现（发热、中性粒细胞性皮肤病、软骨炎、肺部浸润、眼部炎症、静脉血栓形成）和血液学损害（巨细胞贫血、血小板减少、骨髓和早幼红细胞空泡、骨髓发育异常），从而导致显著的发病率和死亡率。目前的治疗管理方法尚不完善，现有的主要治疗方法旨在控制炎症症状或针对突变。对症支持治疗包括控制危险因素（如感染和血栓形成）、成分输血以及使用造血药物。本综述旨在总结过去两年中该疾病在发病机制、临床表现和治疗方面的新进展。
