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Thrombosis in VEXAS syndrome
Thet Mon Oo1,2,3, Jie Tian Jeanette Koay4, Siew Fen Lee1
1Department of General Medicine, Tan Tock Seng Hospital, Singapore, Singapore.
Journal of Thrombosis and Thrombolysis
|November 24, 2021
Summary
VEXAS syndrome, caused by a UBA1 mutation, significantly increases the risk of venous thromboembolism (VTE). Early VTE detection and management are crucial for patients with this autoinflammatory condition.
Area of Science:
- Rheumatology
- Hematology
- Genetics
Background:
- VEXAS syndrome is an autoinflammatory disorder characterized by somatic mutations in the UBA1 gene.
- Patients with VEXAS syndrome exhibit a substantial thrombotic risk.
Observation:
- A 69-year-old male diagnosed with VEXAS syndrome experienced venous thromboembolism (VTE).
- Literature review indicates VTE occurs in 36.4% of VEXAS patients, predominantly deep vein thrombosis, compared to arterial thrombosis (1.6%).
Findings:
- Somatic UBA1 gene mutations lead to reduced ubiquitylation.
- This reduction contributes to thrombosis via chronic inflammation, cytokine release, and dysregulated hemostasis.
- Abnormal interactions between immune cells, platelets, and endothelium cause endothelial dysfunction.
Implications:
- Targeting endothelial dysfunction and inflammation with immunosuppressants and immunomodulatory agents is a potential strategy.
- Combined with anticoagulation, this approach may prevent recurrent thrombotic events in VEXAS syndrome patients.
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