Recently approved recombinant factor VIII (rFVIII) for the replacement treatment in patients with hemophilia A in Italy

Abstract

HemopHilia a Inherited or acquired genetic mutation resulting in dysfunction or deficiency of factor VIII (FVIII) or acquired inhibitor that binds FVIII are causes of Hemophilia A, a rare bleeding disorder. Among patients with genetic Hemophilia A, up to one third of cases are the results of new mutations (not present in the mother’s X chromosome) [1]. Dysfunction or deficiency of FVIII leads to an insufficient generation of thrombin by the FIXa and FVIIIa complex by means of the intrinsic pathway of the coagulation cascade. This mechanism, in combination with the effect of the tissue-factor pathway inhibitor, generates, depending on the level of FVIII activity, a relevant trend towards easy bruising or inadequate clotting of traumatic or even mild injury or, particularly in subjects with severe hemophilia, with spontaneous hemorrhage [1]. Hemophilia A is classified as mild, moderate, or severe depending on the amount of the clotting FVIII in blood. In severe hemophilia A, the FVIII levels are practically undetectable (<1%) causing chronic debilitating joint disease results from repeated hemarthrosis, synovial membrane inflammation, hypertrophy and, in some cases, destructive arthritis. In order to prevent functional disability, early replacement of coagulation factors through infusion is necessary. In most developed countries, the standard of care is the prophylactic therapy starting in young patients [1]. LetteR to the edItoR