Prophylaxis of bleeding episodes and surgical interventions in patients with rare inherited coagulation disorders.

Abstract

Rare inherited coagulation disorders (RICD) represent a group of inherited deficiencies of clotting factors characterized by a low prevalence in the general population (usually around 1:1,000,000 inhabitants) and, in severe cases (homozygous or compound heterozygotes), by the invariable occurrence of bleeding after invasive procedures if not adequately treated. Furthermore, spontaneous or post-traumatic severe bleeding may occur, as usually observed in patients with haemophilia, although less frequently. The clinical picture of patients with RICD may, however, be complicated by particular situations not encountered in haemophiliacs, such as gynaecological bleeding. The availability of virally-inactivated plasma-derived concentrates of the missing factors, apart from factor V, has rendered surgery and prophylaxis more feasible in these disorders, thus reducing the risk of life-threatening episodes and significantly improving the quality of life of affected patients. The goal for the future is to render this treatment accessible to all patients with these disorders, also to those living in developing countries.