Abstract
Over the past forty years the availability of coagulation factor replacement therapy has greatly contributed to the improved care of people with hemophilia. Following the blood-borne viral infections in the late 1970s and early 1980, caused by coagulation factor concentrates manufactured using non-virally inactivated pooled plasma, the need for safer treatment became crucial to the hemophilia community. The introduction of virus inactivated plasma-derived coagulation factors and then of recombinant products has revolutionized the care of these people. These therapeutic weapons have improved their quality of life and that of their families and permitted home treatment, i.e., factor replacement therapy at regular intervals in order to prevent both bleeding and the resultant joint damage (i.e. primary prophylaxis). Accordingly, a near normal lifestyle and life-expectancy have been achieved. The main current problem in hemophilia is the onset of alloantibodies inactivating the infused coagulation factor, even though immune tolerance regimens based on long-term daily injections of large dosages of coagulation factors are able to eradicate inhibitors in approximately two-thirds of affected patients. In addition availability of products that bypass the intrinsic coagulation defects have dramatically improved the management of this complication. The major challenges of current treatment regimens, such the short half life of hemophilia therapeutics with need for frequent intravenous injections, encourage the current efforts to produce coagulation factors with more prolonged bioavailability. Finally, intensive research is devoted to gene transfer therapy, the only way to ultimately obtain cure in hemophilia.
Highlights
Hemophilia A and B are X chromosome-linked bleeding disorders included among the rare diseases and caused by mutations in the factor VIII (FVIII) and factor IX (FIX) genes [1]
In 1977, the discovery of desmopressin, a synthetic drugs that increases plasma levels of FVIII and von Willebrand factor, provided a new, inexpensive and safe treatment for patients with mild hemophilia A, who could avoid or substantially reduce the use of plasmaderived products, the corresponding high costs and the risks of bloodborne infections [1,11]. This optimistic perception of hemophilia changed dramatically in the early 1980s, at a time when 60-70% of people with severe disease became infected with the human immunodeficiency virus (HIV) that had contaminated coagulation factor concentrates
Other large prospective cohort studies of previously untreated patients (PUPs) with severe hemophilia, such as the European PedNet Registry [37] and the French cohort (FranceCoag Network) [38], may contribute to fulfill these objectives. Another still controversial issue is that of the comparative efficacy of plasma-derived or recombinant FVIII in antigen-specific immune tolerance induction (ITI), a method meant eradicate inhibitors through the longterm daily treatment of patients with large doses of coagulation factors
Summary
Hemophilia A and B are X chromosome-linked bleeding disorders included among the rare diseases and caused by mutations in the factor VIII (FVIII) and factor IX (FIX) genes [1]. In 1977, the discovery of desmopressin, a synthetic drugs that increases plasma levels of FVIII and von Willebrand factor, provided a new, inexpensive and safe treatment for patients with mild hemophilia A (and type 1 von Willebrand disease), who could avoid or substantially reduce the use of plasmaderived products, the corresponding high costs and the risks of bloodborne infections [1,11] This optimistic perception of hemophilia changed dramatically in the early 1980s, at a time when 60-70% of people with severe disease became infected with the human immunodeficiency virus (HIV) that had contaminated coagulation factor concentrates. Other large prospective cohort studies of PUPs with severe hemophilia, such as the European PedNet Registry [37] and the French cohort (FranceCoag Network) [38], may contribute to fulfill these objectives Another still controversial issue is that of the comparative efficacy of plasma-derived or recombinant FVIII in antigen-specific immune tolerance induction (ITI), a method meant eradicate inhibitors through the longterm daily treatment of patients with large doses of coagulation factors. Further studies are needed to evaluate the immunogenity of OBI-1
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