A review of VEXAS syndrome in 116 French patients

Abstract

British Journal of DermatologyVolume 186, Issue 3 p. e115-e115 Plain Language SummaryFree Access A review of VEXAS syndrome in 116 French patients First published: 07 March 2022 https://doi.org/10.1111/bjd.20989AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Abstract Linked Article: Georgin-Lavialle et al. Br J Dermatol 2022; 186:564–574. Autoinflammatory syndromes are conditions in which fever and signs of inflammation occur without an infectious cause. Some of these, mostly rare, syndromes are linked to mutations (faults in genetic code) in a specific gene. VEXAS syndrome (Vacuoles, E1 Enzyme, X chromosome, Autoinflammatory, Somatic) has recently been described and linked to a mutation in the UBA1 gene, located on the X chromosome; it is therefore much commoner in men. A major feature of the condition is relapsing polychondritis (an inflammation of the cartilage particularly affecting the respiratory tract). Other features include a tendency to spontaneous blood clotting, lung inflammation, joint pains and skin lesions including vasculitis and neutrophilic dermatosis. VEXAS is often associated with myelodysplasia (premalignant changes in blood cells), and often has a poor prognosis. Treatment includes glucocorticoids and anti-inflammatory disease modifying drugs (DMARDs). In this paper from France, the authors from multiple centres of expertise in autoinflammatory diseases worked with laboratories performing UBA1 gene analysis to collect data on their patients with VEXAS syndrome over a 6-month period. The authors added lymph node enlargement and erosive arthritis to the clinical features. They identified three clusters of disease in their patients. The first had mild to moderate disease with less fever; this group was strongly linked to a mutation in UBA1, and had a relatively good outcome. The second cluster had more severe disease, including relapsing polychondritis, and myelodysplasia was common; this group had a higher mortality rate. The third group comprised older patients who presented with inflammatory features such as skin vasculitis and weight loss. The authors found that increased mortality in VEXAS syndrome was linked to involvement of lung tissue and the gastrointestinal tract (e.g. perforation of the gut). Volume186, Issue3March 2022Pages e115-e115 RelatedInformation