A patient with a history of recurrent venous thromboembolism is found to have a mutation in the gene encoding for thrombomodulin. What is the likely consequence of this mutation?
Explanation
Thrombomodulin is a receptor on endothelial cells that binds to thrombin and activates protein C, which in turn inhibits coagulation factors. A mutation in the gene encoding for thrombomodulin would likely impair the activation of protein C, leading to a prothrombotic state.
Source
New England Journal of Medicine











