(See also Overview of Thrombotic Disorders.)
Hyperhomocysteinemia may predispose to arterial and venous thrombosis.
Hyperhomocysteinemia may predispose to arterial thrombosis and venous thromboembolism, possibly because of injury to vascular endothelial cells. Some experts believe, however, that there is insufficient evidence definitively to link hyperhomocysteinemia to thrombosis.
Plasma homocysteine levels are elevated ≥ 10-fold in homozygous cystathionine beta-synthase deficiency. Milder elevations occur in heterozygous deficiency and in other abnormalities of folate metabolism, including methyltetrahydrofolate dehydrogenase deficiency. The most common causes of hyperhomocysteinemia are acquired deficiencies of
Folate deficiency is rare in the Western world due to folate fortification of wheat flour.
The abnormality is established by measuring plasma homocysteine levels.