A patient presents with recurrent venous thromboembolism and is found to have a mutation in the gene encoding for methylenetetrahydrofolate reductase (MTHFR). What is the most likely underlying condition contributing to this patient's thrombophilic state?
Explanation
The MTHFR gene mutation can lead to hyperhomocysteinemia, a condition characterized by elevated levels of homocysteine in the blood. Hyperhomocysteinemia is a known risk factor for venous thromboembolism because it can damage the endothelium and promote blood clotting.
Source
Harrison's Principles of Internal Medicine











