Clinical Heterogeneity of the VEXAS Syndrome

The objective of this study is to describe the clinical features and outcomes of patients with the newly defined vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome. Nine men with somatic mutations in the UBA1 gene were identified; the most frequent variant was p.Met41Thr (7 of 9, 78%). The median age at VEXAS diagnosis was 74 (67, 76.5) years, and patients had a median duration of symptoms for 4 years before diagnosis. Refractory constitutional symptoms (88%), ear and nose chondritis (55%), and inflammatory arthritis (55%) were common clinical features.

Source: Mayo Clinic Proceedings - September 3, 2021 Category: Internal Medicine Authors: Matthew J. Koster, Taxiarchis Kourelis, Kaaren K. Reichard, Tanaz A. Kermani, David B. Beck, Daniela Ospina Cardona, Matthew J. Samec, Abhishek A. Mangaonkar, Kebede H. Begna, C. Christopher Hook, Jennifer L. Oliveira, Samih H. Nasr, Benedict K. Tiong, Mr Tags: Brief report Source Type: research