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 aged >50 years, with a prevalence of approximately 1 in 4000 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 thromboinflammatory events and progressive vascular involvement leading to a fatal outcome despite optimal multidisciplinary care. The patient consented to have his case published.