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Thrombomodulin in patients with mild to moderate bleeding tendency
Dino Mehic1, Alexander Tolios2,3,4, Stefanie Hofer1
1Clinical Division of Hematology and Hemostaseology, Department of Medicine I, Medical University of Vienna, Vienna, Austria.
Summary
Thrombomodulin-associated coagulopathy is rare. This study found no link between soluble thrombomodulin (sTM) levels, genetic variants, and bleeding disorders in 507 patients.
Area of Science:
- Hematology
- Genetics
- Coagulation Disorders
Background:
- A novel bleeding disorder linked to increased soluble thrombomodulin (sTM) from thrombomodulin gene (THBD) variants has been identified.
- Investigating sTM's role in bleeding disorders is crucial for understanding hemostasis.
Purpose of the Study:
- To assess soluble thrombomodulin (sTM) levels and THBD gene variants in patients with mild to moderate bleeding disorders (MBD) and bleeding of unknown cause (BUC).
- To determine if sTM impacts bleeding severity or coagulation function.
Main Methods:
- Measured sTM levels, thrombin generation, and clot formation in 507 MBD patients and 90 controls.
- Performed genetic analysis of the THBD gene in MBD patients.
Main Results:
- No significant difference in sTM levels was observed between patients and healthy controls.
- High sTM levels were not more frequent in patients, and sTM did not correlate with bleeding severity or hemostasis tests.
- No pathogenic or novel disease-causing variants in the THBD gene were found in the patient cohort.
Conclusions:
- Thrombomodulin-associated coagulopathy is uncommon, not detected in this large MBD patient cohort.
- Soluble thrombomodulin is not identified as a risk factor for bleeding or altered hemostasis in MBD patients.
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