Update on selected inherited venous thrombotic disorders.
The inherited thrombophilias are a group of inherited conditions that predispose to thrombotic events. Most of the inherited thrombotic disorders are associated with venous thromboembolism rather than arterial thrombosis. Frequently, one or more predisposing genetic factors and/or environmental risk factor are identified in thrombosis patients. Significant advances in the identification of etiologies of inherited thrombosis have recently been reported. The most common inherited thrombotic disorders include activated protein C (APC) resistance (factor V Leiden), hyperhomocysteinemia, the prothrombin gene variant G20210A, elevated factor VIII levels, and deficiencies of thrombomodulin, protein C, protein S, and antithrombin. Less well characterized disorders include elevated factor IX, X, and XI levels. Recognition of these disorders now permits a laboratory diagnosis in approximately 70% of patients being evaluated for inherited thrombosis. This review focuses on the clinical and laboratory aspects of some of the most common inherited venous thrombotic disorders, including APC resistance, hyperhomocysteinemia, the prothrombin G20210A mutation, and elevated coagulation factor levels.
Robetorye
R S
RS
Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA.
Rodgers
G M
GM
D001779:Blood Coagulation Factors / Q000235:genetics / Q000378:metabolism; D019411:Clinical Laboratory Techniques / Q000592:standards; D005192:Family Health; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D012307:Risk Factors; D020246:Venous Thrombosis / Q000097:blood / Q000209:etiology / Q000235:genetics*
D001779:Blood Coagulation Factors