Genetics of Hypercoagulable and Hypocoagulable States

Abstract

Hemostasis is the normal process of blood coagulation in vivo to stop pathologic bleeding. Virchow triad includes venous stasis, hypercoagulability, and vascular injury. Natural anticoagulants include protein C, protein S, and antithrombin. Factor V Leiden is the most common inherited thrombophilia, followed by prothrombin gene mutation. All inherited thrombophilias are passed down in an autosomal dominant fashion. Patients harboring the antiphospholipid antibodies have an increased risk for thrombosis. von Willebrand disease is the most common inherited bleeding disorder; the pattern of inheritance is autosomal. Hemophilia A and B are the only hereditary bleeding disorders inherited in a sex-linked recessive pattern.

Keywords: Antiphospholipid syndrome; Antithrombin deficiency; Factor V Leiden; Hemophilia; Protein C and S deficiencies; Prothrombin gene mutation; von Willebrand disease.