Treatment Options for VEXAS Syndrome

Key Messages

• VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a disorder caused by a genetic mutation, and is characterized by hematologic and autoinflammatory symptoms that are severe and progressive. It is typically seen in older men and is considered to be rare.
• Proposed treatments for VEXAS syndrome include DNA hypomethylating agents such as azacitidine, anti-IL6 monoclonal antibodies such as tocilizumab, and Janus kinase inhibitors such as ruxolitinib.
• We found 5 non-randomized studies on the effectiveness of the proposed treatments — 4 on azacitidine; 1 on ruxolitinib; and 1 on azacitidine, ruxolitinib, and tocilizumab.
• There are several limitations to the research studies, most notably that they included a small number of patients who were retrospectively identified as having VEXAS syndrome. Therefore, the effectiveness of tocilizumab, ruxolitinib, and azacitidine for treating VEXAS syndrome is uncertain.
• We did not find any evidence-based guidelines on the management of VEXAS syndrome.