Blood Levels of Homocysteine and Increased Risks of Cardiovascular Disease

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Abstract
HOMOCYSTINURIA is a rare autosomal recessive condition usually resulting from homozygous deficiency of cystathionine β-synthase, an enzyme required in methionine metabolism for the conversion of homocysteine to cystathionine. Patients with homocystinuria commonly have fasting plasma total homocysteine (sum of free plus protein-bound forms) levels exceeding 250 µmol/L, compared with a reference range of 5 to 15 µmol/L in healthy subjects,1,2 and are prone to premature atherosclerosis and thromboembolism of the extracranial and intracranial cerebral arteries and veins, the coronary arteries, and the peripheral arteries and veins.3,4 While other enzymatic defects can also produce homocystinuria, the observation 3 decades ago that vascular disease was common regardless of the source of the defect suggested that homocysteine may be responsible for the vascular abnormality.5 Plausible mechanisms to mediate a deleterious effect of high homocysteine level include vascular endothelial dysfunction,6-9 promotion of oxidation of low-density lipoprotein cholesterol,10,11 vascular smooth cell proliferation,12 and coagulation abnormalities.13-15

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