Hyperhomocysteinemia - Pathogenesis, clinical significance, laboratory assessment, and treatment

with the emergence of increased plasma homocysteine (hyperhomocysteinemia) as a potential independent risk factor for thrombosis and peripheral or car diovascular disease (or both), the medical community now has a better appre ciation of its possible role, and thus its clinical significance in the pat hogenesis of atherosclerosis. Hyperhomocysteinemia can be caused by disrupt ion in the metabolism of homocysteine or its related cofactors by pharmaceu tical agents, a lack of nutrition, and inherited or acquired disorders asso ciated with homocysteine metabolism. Since homocysteine assays have become available in formats familiar to most laboratory professionals, the role of the clinical laboratory in the diagnosis of hyperhomocysteinemia has becom e more significant. Preanalytical factors such as specimen collection and s torage are also important considerations to accurately detect and monitor p atients with hyperhomocysteinemia.