Recognizing VEXAS: Diagnosis, Clinical Clues, and Management Strategies

This session focuses on improving recognition and management of VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, a recently characterized disorder driven by somatic UBA1 mutations. Dr. David Beck will review key clinical clues, including refractory cytopenias, systemic inflammation, chondritis, and thromboembolic events, that often lead to delayed or missed diagnosis. Emphasis will be placed on integrating genomic testing into diagnostic workflows and distinguishing VEXAS from mimicking rheumatologic and hematologic conditions. Emerging data from recent hematology meetings highlighting genotype–phenotype correlations, clonal evolution, and associations with myelodysplastic syndromes will be discussed. The session will also explore evolving management strategies, including targeted immunosuppression, hypomethylating agents, and the role of allogeneic stem cell transplantation in select patients.