VEXAS within the spectrum of rheumatologic disease

Abstract

The identification of the VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome as a myeloid-driven inflammatory disease resulting from somatic mutations in the UBA1 gene further exposes the increasingly recognized overlap between hematologic disturbances and auto-immunity and/or auto-inflammatory presentations. Although single or multi-lineage cytopenias are a unifying aspect of VEXAS, patients with this condition can present with a wide array of inflammatory findings affecting the skin, lung, joints, eye, vascular system, and cartilaginous structures. As such, it is paramount that generalists, and subspecialty providers familiarize themselves with the clinical characteristics of this condition. This review summarizes the reported clinical symptoms of VEXAS syndrome with a particular focus on its non-hematologic inflammatory features.

Keywords: Autoimmune; Autoinflammatory; Rheumatology; VEXAS; Vasculitis.