Inherited bleeding disorders

The most common inherited disorders of coagulation are von Willebrand disease (VWD), haemophilia A and haemophilia B. Haemophilia A and B are sex-linked disorders, whereas VWD is inherited in an autosomal fashion. Definitive diagnosis is made using coagulation factor assays after a thorough history and examination. Treatment of bleeding episodes is with therapies that, where possible, avoid the use of blood products, to reduce the hypothetical (but possible) risk of transfusion-transmitted infection. Recombinant factors VIII and IX are the products of choice for haemophilia A and B, respectively, but recombinant von Willebrand factor (VWF) concentrate is awaiting regulatory body approval for use. Target factor concentrations for surgery and to treat bleeding are 100%. Inhibitors can develop with factor VIII and IX therapy; bypassing agents are then required to treat bleeding. Desmopressin (DDAVP) increases endogenous VWF concentration and, in addition to tranexamic acid, is often used in type 1/2 VWD before surgery or to treat bleeding. Other coagulation factor deficiencies are rare, with specific concentrates for most conditions. Inherited platelet disorders are thought to be very rare. Milder forms are usually managed with tranexamic acid or DDAVP, but more severe forms require platelet transfusions and/or recombinant factor VIIa.