Nature of Bleeding

Hemorrhagic diathesis can be caused by disorders in primary hemostasis (von Willebrand disease, inherited platelet function disorders), secondary hemostasis (hemophilia A, B, other coagulant factor deficiencies) and fibrinolysis, and in connective tissue or vascular formation. This review summarizes the approach to a bleeding patient starting from structured patient history, to applying bleeding assessment tools (BATs), the utilization of currently available diagnostic methods for bleeding disorders and finally investigating with highly specialized tests. A comprehensive framework for a genetic diagnostic work up to inherited bleeding disorders is the need of the hour. The discovery of a wide spectrum of mutations in the various genes associated with coagulation and their association with different severity of the disease has allowed for the development of a rational strategy for mutation detection in clinical settings. Characterization of the genetic defects is also required for carrier detection, antenatal testing, and predicting risk of factor inhibitor development.