Genetic basis of inherited bleeding and thrombolic disorders

The peri-operative management of patients with hereditary bleeding and thrombotic disorders poses specific problems in relation to haemostasis and anticoagulation. An understanding of the molecular genetics, pathophysiology, clinical presentation and treatment of these diseases facilities management, and substantially reduces peri-operative complications through improved outcome. In this chapter, the most commonly encountered and clinically relevant inherited bleeding disorders and thrombophilia are described in some detail, with emphasis on the mechanisms whereby genetic defects induce clinical symptoms, and the treatment of such symptoms in relation to invasive procedures and intensive care. Specific attention has been directed to the use of recombinant proteins and the recently introduced activated factor VIIa as a ‘panhaemostatic agent’ in the treatment of refractory thrombocytopenia and platelet function disorders and in the therapy of coagulation inhibitors in the haemophilias.