Sullivan Megan M, Koster Matthew J
Department of Internal Medicine, Division of Rheumatology, Mayo Clinic, Scottsdale, AZ, USA.
Department of Internal Medicine, Division of Rheumatology, Mayo Clinic, Rochester, MN, USA.
Clin Exp Rheumatol. 2025 Apr;43(4):749-755. doi: 10.55563/clinexprheumatol/zfpryq. Epub 2025 Mar 25.
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently defined clinical entity caused by somatic mutations in UBA1, a gene encoding the ubiquitin-activating enzyme 1, the major enzyme that initiates ubiquitylation. Dysfunction of the ubiquitin pathway results in a treatment-refractory autoinflammatory syndrome associated with haematologic abnormalities. Clinical features are heterogenous but small-, medium- and large-vessel vasculitis have been observed. This review will highlight vasculitic manifestations of VEXAS syndrome and provide recommendations on when to consider VEXAS syndrome among patients presenting with atypical, treatment-refractory, or recalcitrant vasculitic features.
VEXAS（空泡、E1酶、X连锁、自身炎症性、体细胞）综合征是一种最近定义的临床病症，由UBA1基因的体细胞突变引起，该基因编码泛素激活酶1，即启动泛素化的主要酶。泛素途径功能障碍导致一种与血液学异常相关的难治性自身炎症综合征。临床特征具有异质性，但已观察到小、中、大血管血管炎。本综述将重点介绍VEXAS综合征的血管炎表现，并就如何在出现非典型、难治性或顽固性血管炎特征的患者中考虑VEXAS综合征提供建议。
