GENETIC AND BIOCHEMICAL THROMBOSIS RISK MARKERS IN PREGNANCY. I. COAGULATION PATHWAYS

Thrombophilia is a health state manifested by hypercoagulability or prothrombotic state. This is characterized by abnormal blood coagulation leading to increased risk of clots formation in blood vessels, a pathological event named thrombosis affecting endothelial cells of vascular system. It is a critical state for pregnant women and knowledge of its hereditary and environmental factors enable medical services to be optimized for maintenance of normal pregnancy and avoidance of adverse events such as miscarriages. Genetic and biochemical estimation of thrombosis risk may decrease the frequency of such events, providing a correct interpretation of the results and relevant risk stratification. We present a diagnosis algorithm based on the discussion of the biological and clinical significance of two major metabolic pathways involving central factors of: I. coagulation and II. homocysteine as the one-carbon metabolism. Additional genes and metabolites are introduced in this complex algorithm in order to correctly evaluate the thrombosis risk and to establish efficient personalized treatment or prophylaxis scheme.