A fatal case of VEXAS syndrome with a brief review

VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently described adult-onset autoinflammatory condition characterized by somatic mutations in the X-linked UBA1 gene. UBA1 mutations cause defective protein ubiquitination, driving widespread inflammation and hematologic dysregulation. VEXAS predominantly affects males over the age of 50, with a prevalence of ∼1 in 4,000 in this population.1 Diagnosis requires strong clinical suspicion and is confirmed via genetic testing. Currently, no standardized treatment exists, and patients often fail conventional immunosuppression. We present a VEXAS case complicated by recurrent thrombo-inflammatory events and progressive vascular involvement leading to a fatal outcome despite optimal multidisciplinary care. Patient had consented to have his case published.