Treatment strategies in children with hemophilia.

Hemophilia is an inherited bleeding disorder caused by quantitative or qualitative defects in the synthesis of factor VIII (FVIII) or factor IX (FIX). Clinically, it is divided into severe, moderate and mild disease depending on the levels of FVIII or FIX in the blood. The bleeding tendency is most pronounced and can start at a very young age in severe hemophilia, which is characterized by repeated hemorrhage into the joints and muscles. Without treatment, these episodes lead to severe arthropathy, and there is also a high risk of lethal cerebral hemorrhage. The treatment of bleeding symptoms requires the correction of the coagulation defect. Factor concentrates have been available for 30 years, initially with the development of cryoprecipitate, subsequently with increasingly purified plasma-derived forms, and ultimately with recombinant clotting factor concentrates. The advantage of this highly effective therapy has been subdued by the outbreak of HIV and Hepatitis C infections in patients with hemophilia treated with factor concentrates which did not have adequate viral inactivation steps in the purification process. Plasma-derived and recombinant factor concentrates are today considered to have a good safety profile, but are only available for a small group of hemophilia patients worldwide. A multidisciplinary team approach is important for early diagnosis, communication with the patient and parents, and to tailor the best treatment possible with the amount of clotting factor concentrates available. The main goal of hemophilia treatment is to prevent bleeding symptoms and allow normal integration in social life. In patients with severe hemophilia, this can best be achieved by early home treatment and primary prophylaxis. Future developments in gene therapy may transform severe hemophilia to a mild form, with no need for regular injections of clotting factor concentrates.