Inherited bleeding disorders

• Autores: Vickie McDonald, Steven K. Austin
• Localización: Medicine, ISSN-e 1357-3039, Vol. 41, Nº. 4, 2013, págs. 231-233
• Idioma: inglés
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• Resumen

  • The most common inherited disorders of coagulation are von Willebrand's disease, haemophilia A and haemophilia B. Haemophilia A and B are sex-linked disorders, whereas von Willebrand's disease 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 avoid the use of blood products, where possible, to reduce the risk of infection transmission. Recombinant factors VIII and IX are the products of choice for patients with haemophilia A and B respectively, but there is no recombinant von Willebrand factor concentrate currently available. Target factor concentrations for surgery and to treat bleeding are 100%. Inhibitors may develop with factor VIII and IX therapy and bypassing agents are then required to treat bleeding. Desmopressin (DDAVP) increases endogenous von Willebrand factor concentration and, in addition to tranexamic acid, is often used in von Willebrand's disease prior to surgery or to treat bleeding. Other coagulation factor deficiencies are rare and there are specific concentrates for most conditions. Inherited platelet disorders are very rare. Milder forms are usually managed with tranexamic acid or DDAVP, but more severe forms require platelet transfusions and/or recombinant factor VIIa.