VEXAS Syndrome—A Review of Pathophysiology, Presentation, and Prognosis
Matthew J. Koster, Matthew J. Samec, Kenneth J. Warrington
Abstract
ABSTRACT: VEXAS ( V acuoles, E 1 enzyme, X -linked, A utoinflammatory, S omatic) syndrome is a newly identified disease caused by somatic mutations in the UBA1 gene resulting in refractory autoinflammatory features, frequently accompanied by cytopenias. Although the prevalence of this syndrome is yet unknown, understanding the clinical phenotype can assist clinicians in prompt recognition of cases among patients with glucocorticoid-responsive but immunosuppressive-resistant inflammatory symptoms. The pathophysiology, clinical presentation, diagnostic methods, treatment, and prognosis of VEXAS are herein reviewed.
Topics & Concepts
MedicinePathophysiologyDiseasePresentation (obstetrics)Clinical phenotypeRefractory (planetary science)PhenotypeBioinformaticsInternal medicineGeneSurgeryGeneticsBiologyAstrobiologyPhysicsOtitis Media and Relapsing PolychondritisVascular Anomalies and TreatmentsCoagulation, Bradykinin, Polyphosphates, and Angioedema