A patient with a history of deep vein thrombosis is found to have a mutation in the MTHFR gene. What is the significance of this mutation in relation to coagulation disorders?

A It leads to an increase in homocysteine levels, which can damage the endothelium and promote thrombosis ✓
B It results in a deficiency of protein C, leading to an increased risk of venous thromboembolism
C It causes a reduction in the production of antithrombin III, leading to an increased risk of thrombosis
D It has no direct impact on coagulation pathways but is associated with an increased risk of cardiovascular disease

Explanation

The MTHFR gene mutation can lead to hyperhomocysteinemia, a condition characterized by elevated levels of homocysteine in the blood. High homocysteine levels can damage the endothelium, promote thrombosis, and increase the risk of venous thromboembolism.

Source

Genetics and hematology research articles
Hematology Hematology: Coagulation Disorders Hematology: Coagulation Disorders Hard MEDICAL Confidence: medium