VEXAS syndrome: lessons learnt from an early Australian case series
Sadia Islam, Taylor Cullen, Daniel Sumpton, Arvin Damodaran, David Heath, Annmarie Bosco, Nicole Wong Doo, Giselle Kidson‐Gerber, Anthony Cheong, Ron Lawford, Rebecca Walsh, Anthony M. Sammel
Abstract
VEXAS is a newly recognised adult-onset autoinflammatory syndrome resulting from a somatic mutation in the UBA1 gene. Herein, we present three cases of VEXAS syndrome in Sydney, Australia, that capture key clinical features and the refractory nature of the condition. They highlight the importance of multidisciplinary collaboration for early diagnosis and the need for new therapeutic options.
Topics & Concepts
MedicineMultidisciplinary approachIntensive care medicinePediatricsSocial scienceSociologyOtitis Media and Relapsing PolychondritisVascular Anomalies and TreatmentsCoagulation, Bradykinin, Polyphosphates, and Angioedema