the pharmacological management of genetically determined coagulation disorders

Abstract

This thesis explores the pharmacological management of inherited blood coagulation disorders, which include both hemorrhagic conditions like hemophilia A and B and von Willebrand disease, as well as thrombophilic disorders such as Factor V Leiden mutation and prothrombin gene mutation (G20210A). It details the coagulation cascade, the role of platelets and endothelial cells in hemostasis, and the genetic factors influencing coagulation. The thesis highlights factor replacement therapy as the primary treatment for bleeding disorders, with non-replacement therapies like emicizumab and desmopressin offering alternatives. Anticoagulants such as heparin, warfarin, and direct oral anticoagulants (DOACs) are essential for managing thrombophilic disorders. Emerging therapies, including gene therapy, long-acting factor concentrates, and RNA-based treatments, show promise in improving long-term outcomes. Overall, the study emphasizes the need for personalized medicine approaches to optimize treatment strategies for these complex hematological conditions.