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?

A Homocystinuria
B Thrombotic thrombocytopenic purpura
C Antiphospholipid syndrome
D Hyperhomocysteinemia ✓

Explanation

A homozygous mutation in the MTHFR gene leads to elevated levels of homocysteine, increasing the risk of thrombosis.

Source

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