Treatment Options for VEXAS Syndrome

Abstract

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.