A patient with a history of recurrent venous thrombosis is found to have a mutation in the gene encoding for thrombomodulin. What is the most likely diagnosis?
Explanation
Thrombomodulin is a protein that binds to thrombin and activates protein C, which then inhibits the coagulation cascade. A mutation in the gene encoding for thrombomodulin can lead to a prothrombotic state.
Source
Recent research articles











