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Hypercoagulation disorders may be acquired or hereditary. Some of the genetic disorders that lead to hypercoagulation are abnormal clotting factor V, variations in fibrinogen, and deficiencies in proteins C and S. Other body system diseases may also lead to these disorders, including diabetes, sickle cell anemia, congenital heart disease, lupus, thalassemia, polycythemia rubra vera, and others. Antithrombin III deficiency is a hereditary hypercoagulation disorder that affects both sexes. Symptoms include obstruction of a blood vessel by a clot (thromboembolic disease), vein inflammation (phlebitis), and ulcers of the lower parts of the legs. The role of proteins C and S is a complex one. In order for coagulation to occur, platelets (small, round fragments in the blood) help contract blood vessels to lessen blood loss and also to help plug damaged blood vessels. However, the conversion of platelets into actual clots is a complicated web involving proteins that are identified clotting factors. The factors are carried in the plasma, or liquid portion of the blood. Proteins C and S are two of the clotting factors that are present in the plasma to help regulate or activate parts of the clotting process. Protein C is considered an anticoagulant. Mutation defects in the proteins may decrease their concentrations in the blood, and may or may not affect their resulting anticoagulant activity. Factor V is an unstable clotting factor also present in plasma. Abnormal factor V resists the changes that normally occur through the influence of protein C, which can also lead to hypercoagulability. Prothrombin, a glycoprotein that converts to thrombin in the early stage of the clotting process, is affected by the presence of these proteins, as well as other clotting factors.
The diagnosis of hypercoagulation disorders is completed with a combination of physical examination, medical history, and blood tests. An accurate medical history is important to determine possible symptoms and causes of hypercoagulation disorders. There are a number of blood tests that can determine the presence or absence of proteins, clotting factors, and platelet counts in the blood. Among the tests used to detect hypercoagulation is the Antithrombin III assay. Protein C and Protein S concentrations can be diagnosed with immunoassay or plasma antigen level tests.
The prognosis for patients with hypercoagulation disorders varies depending on the severity of the clotting and thrombosis. If undetected and untreated, thrombosis could lead to recurrent thrombosis and pulmonary embolism, a potentially fatal problem.