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

A Homocystinuria
B Thrombophilia due to factor V Leiden mutation
C Hyperhomocysteinemia ✓
D Antiphospholipid syndrome

Explanation

A mutation in the MTHFR gene can lead to hyperhomocysteinemia, which is a risk factor for venous thromboembolism.

Source

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