Abstract: VEXAS syndrome is a rare late-onset autoinflammatory disease, which was first reported in 2020. This disease is associated with somatic UBA1 gene mutation, and has systemic inflammation and hematological abnormalities such as myeloid and erythroid precursor cell vacuolization in the bone marrow. The recurrence and mortality rates are high. At present, there is no authoritative consensus or guideline for the diagnosis and treatment of VEXAS syndrome, which is prone to missed diagnosis and misdiagnosis. The evidence for treatment is largely limited to individual cases or case series, with a lack of high-quality clinical trials. This review discusses the diagnostic points and therapeutic advances of VEXAS syndrome, thus facilitating patients' early identification and better treatment selection, enhancing the long-term disease remission rate, and improving prognosis.

Key words: VEXAS syndrome, autoinflammatory disease, UBA1 gene, treatment