VEXAS Syndrome-Review

Abstract

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly defined refractory adult-onset autoinflammatory syndrome caused by somatic mutations in the ubiquitin-like modifier-activating enzyme 1 (UBA1) gene in hematopoietic stem and progenitor cells, resulting in a shift in UBA1 isoform expression. Thus, patients develop a spectrum of systemic inflammatory manifestations and hematologic symptoms. To date, patients respond poorly to immune suppressive drugs, except high-dose glucocorticoids, and no treatment guidelines have been established. Given the high mortality rate, VEXAS syndrome needs to be taken seriously by physicians in all specialties. This article aims to describe the key features, pathogenesis, and clinical manifestations of VEXAS syndrome to better understand the targeted treatment and improve the prognosis of VEXAS syndrome.

Keywords: UBA1; VEXAS syndrome; autoinflammatory; hematological disorders; vacuoles.

Fig. 1

The clinical manifestations of VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome involve multiple organs and systems, such as systemic inflammatory manifestations and hematologic disorders, and characteristic cytoplasmic vacuoles are seen in almost all patients. Genetic sequencing is ultimately required to confirm the diagnosis of VEXAS syndrome.