Congenital bleeding and thrombotic disorders

Congenital bleeding disorders are challenging when planning invasive procedures. Close communication between the surgical team, anesthesia team, and bleeding disorder team is key to successful outcomes. Considerations to be addressed include type and severity of the bleeding disorder, bleeding risk associated with the surgical technique, need for pre, intra-, postoperative laboratory monitoring, availability of specialty replacement products and adjunctive therapies as well as medications to be avoided. Inherited thrombophilias are defined as congenital defects leading to increase generation of thrombin [Factor V Leiden (FVL) and Prothrombin G20210A mutation (PTm)] or deficiencies of plasmatic anticoagulation factors [Protein C, Protein S, Antithrombin] and as a result, increase the risk for thrombosis. This chapter section will review the epidemiology of inherited thrombophilias in children, their biology, recommended indications for testing, and prophylactic treatment.