Reviews
Is it VEXAS or is it vasculitis?
M.M. Sullivan1, M.J. Koster2
- Department of Internal Medicine, Division of Rheumatology, Mayo Clinic, Scottsdale, AZ, USA. sullivan.megan2@mayo.edu
- Department of Internal Medicine, Division of Rheumatology, Mayo Clinic, Rochester, MN, USA.
CER18585
2025 Vol.43, N°4
PI 0749, PF 0755
Reviews
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PMID: 40153327 [PubMed]
Received: 01/02/2025
Accepted : 13/03/2025
In Press: 25/03/2025
Published: 08/04/2025
Abstract
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently defined clinical entity caused by somatic mutations in UBA1, a gene encoding the ubiquitin-activating enzyme 1, the major enzyme that initiates ubiquitylation. Dysfunction of the ubiquitin pathway results in a treatment-refractory autoinflammatory syndrome associated with haematologic abnormalities. Clinical features are heterogenous but small-, medium- and large-vessel vasculitis have been observed. This review will highlight vasculitic manifestations of VEXAS syndrome and provide recommendations on when to consider VEXAS syndrome among patients presenting with atypical, treatment-refractory, or recalcitrant vasculitic features.
