Haemophilia and Von Willebrand Disease

This chapter describes the clinical features and principles of management of the most common inherited bleeding disorders, haemophilia and von Willebrand disease (VWD), together with a summary of the genetic lesions responsible. Investigation of a suspected inherited bleeding disorder usually begins with global screening tests of coagulation, which although considerably removed from normal in vivo coagulation mechanisms, remain extremely useful in detecting and diagnosing coagulation disorders. The chapter discusses the inherited form of haemophilia arising from mutations in the FVIII and FIX genes, but haemophilia can also arise as a result of autoantibodies that neutralize FVIII cofactor activity. Patients with mild or moderate VWD attend infrequently for treatment. The first-line treatment for minor bleeding after local measures have failed in type 1 VWD is desmopressin. The cloning of VWF cDNA and its gene has led to progress in identifying the underlying mutations responsible for the various phenotypes.