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VEXAS Syndrome and Thrombosis: Findings of Inflammation, Hypercoagulability, and Endothelial Dysfunction

journal contribution
posted on 2024-06-03, 08:01 authored by Bingwen E. Fan, Christina L.L. Sum, Pui Lam Bernard LeungPui Lam Bernard Leung, Mui K. Ang, Xin R. Lim, Samuel S.M. Lee, Li W. Koh, Liuh L. Goh, Wee L. Chan, Liang D. Wang, Siu L. Wong, Sen H. Tay

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a novel autoinflammatory syndrome due to a ubiquitin like modifier activating enzyme 1 (UBA1) somatic mutation, recently discovered in 2020.[1] This mutation affects the major E1 enzyme that initiates ubiquitin conjugation of cellular proteins meant for degradation by proteasomes, where decreased ubiquitination causes accumulation of prominent intracellular vacuoles seen in myeloid and erythroid precursors in the bone marrow.[2] This autoinflammatory disease has a significant hematologic malignancy and thrombotic burden, with an increased incidence of venous thromboembolism (VTE) (36.4%), where deep vein thrombosis (DVT) is more common than pulmonary embolism (PE), with a lower incidence of arterial thrombosis (1.6%).[3] However, limited information is available on the potential mechanisms of thrombosis in patients with VEXAS syndrome. We describe two male patients with VEXAS syndrome diagnosed in Singapore and performed biomarkers evaluating the hemostatic, inflammatory, and endothelial function.

Funding

The study was supported in part by the Nanyang Assistant Professorship (Lee Kong Chian School of Medicine, Nanyang Technological University Singapore Start-Up Grant, to S.L.W.).

History

Journal/Conference/Book title

Seminars in Thrombosis and Hemostasis

Publication date

2024-01-05

Version

  • Published

Rights statement

This is the publisher's PDF version of: Fan, B. E., C. L. L. Sum, B. P. L. Leung, M. K. Ang, X. R. Lim, S. S. M. Lee, L. W. Koh, L. L. Goh, W. L. Chan, L. D. Wang, S. L. Wong, and S. H. Tay. 2024. VEXAS Syndrome and Thrombosis: Findings of Inflammation, Hypercoagulability, and Endothelial Dysfunction. Semin Thromb Hemost. https://doi.org/ 10.1055/s-0043-1778105

Corresponding author

Dr Eugene Bingwen Fan

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