A patient with a history of recurrent venous thromboembolism is found to have a mutation in the MTHFR gene. What is the likely underlying condition?

A Protein C deficiency
B Protein S deficiency
C Antithrombin deficiency
D Homocystinuria due to MTHFR mutation ✓

Explanation

A mutation in the MTHFR gene can lead to elevated levels of homocysteine, which can increase the risk of venous thromboembolism due to its prothrombotic effects.

Source

Harrison's Principles of Internal Medicine
Hematology Hematology: Coagulation Disorders Hematology: Coagulation Disorders Hard MEDICAL Confidence: medium