VEXAS syndrome in a nutshell

Abstract

VEXAS is a multisystem autoinflammatory disorder caused by acquired somatic mutations in the ubiquitin-like modifier activating the X chromosome's enzyme 1 (UBA1) gene. VEXAS syndrome predominantly affects men, with the disease typically presenting with a progressive onset after age 50. Patients exhibit a wide range of clinical symptoms which involve skin, lungs, cartilage, and joints. Common systemic symptoms include recurring, unexplained fever episodes, general malaise, and fatigue. The care of VEXAS syndrome is challenging and necessitates a multidisciplinary approach from numerous specialized teams due to its heterogeneous manifestations. Although no standardised therapies are available for VEXAS patients, high-dose, long-term corticosteroid therapies and Janus kinase (JAK) inhibitors are used as therapeutic options.