Clinical Manifestations in Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic (VEXAS) Syndrome: A Narrative Review

Abstract

The newly identified refractory adult-onset autoinflammatory syndrome known as VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is brought on by somatic mutations in the ubiquitin-like modifier-activating enzyme 1 (UBA1) gene in hematopoietic stem and progenitor cells that change the expression of the UBA1 isoform. As a result, patients have a variety of hematologic and systemic inflammatory symptoms. All types of medical professionals should treat VEXAS syndrome seriously due to the high fatality rate. To better comprehend the condition and enhance the prognosis for VEXAS syndrome, this review article describes the essential traits and clinical signs of the condition. The discussion of future directions in the study of systemic inflammatory disorders brought on by somatic mutations concludes.