A patient with a history of deep vein thrombosis is found to have a homozygous mutation in the MTHFR gene. What is the most likely underlying condition contributing to their thrombophilic state?

A Homocysteinemia ✓
B Antithrombin III deficiency
C Protein C deficiency
D Factor V Leiden mutation

Explanation

A homozygous mutation in the MTHFR gene can lead to elevated levels of homocysteine in the blood, known as homocysteinemia, which is a risk factor for thrombosis due to its damaging effects on endothelial cells and promotion of coagulation.

Source

Molecular Basis of Hematology
Hematology Hematology: Coagulation Disorders Hematology: Coagulation Disorders Medium MEDICAL Confidence: high