New Advances in the Study of VEXAS Syndrome——Review

VernacularTitle:VEXAS综合征的研究新进展
Author: Xin GENG ¹ ; Yang YANG ; Ai-Guo ZHANG ; Bao-An CHEN
Author Information

1. 涟水县人民医院血液科,江苏涟水223400
Keywords: VEXAS syndrome; hematologic disorders; autoimmune diseases; UBA1 gene
From: Journal of Experimental Hematology 2024;32(6):1933-1936
CountryChina
Language:Chinese
Abstract: 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 UBA1 .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 UBA1 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.