A case of hyper-homocysteinemia carrying MTHFR gene polymorphism in cerebral sinus thrombosis and pulmonary embolism

Abstract

A 64-year-old man with a history of critical pulmonary embolism and leg venous thrombosis developed a large cerebral sinus thrombosis in the right hemisphere. The laboratory tests showed mild hyper-homocysteinemia associated with a low concentration of folic acid and vitamins B6 and B12. The genetic examination documented methylene tetrahydrofolate reductase (MTHFR) gene variant C677T, known as polymorphism associated with hyperhomocysteinemia. Treatments were anticoagulant medication and supplementation of folic acid and vitamins B6 and B12. Because the MTHFR gene polymorphism leads to a low enzyme activity, this genetic factor is important in the management of thrombosis.