VEXAS syndrome: a new discovered systemic rheumatic disorder
Eugeniusz J. Kucharz
Abstract
VEXAS syndrome is an adult-onset autoinflammatory disease associated with hematologic symptoms. The disease affects primarily males, and leads to death of a significant proportion of the patients. VEXAS syndrome is caused by a somatic mutation of the <i>UBA1</i><i> gene</i> in hematopoietic progenitor cells. The clinical picture of the syndrome consists of a number of organ manifestations including those akin to rheumatic diseases, arthritis, myalgia, vasculitis and chondritis.
Topics & Concepts
MedicinemyalgiaDiseaseArthritisDermatologySystemic vasculitisSystemic diseaseRheumatoid arthritisVasculitisImmunologyInternal medicineOtitis Media and Relapsing PolychondritisVascular Anomalies and TreatmentsCoagulation, Bradykinin, Polyphosphates, and Angioedema