Replacement of the congenitally deficient factor VIII or IX through plasma-derived or recombinant concentrates is the mainstay of treatment for hemophilia. Concentrate infusions when hemorrhages occur typically in joint and muscles (on-demand treatment) is able to resolve bleeding, but does not prevent the progressive joint deterioration leading to crippling hemophilic arthropathy. Therefore, primary prophylaxis, ie, regular infusion of concentrates started after the first joint bleed and/or before the age of two years, is now recognized as first-line treatment in children with severe hemophilia. Secondary prophylaxis, whenever started, aims to avoid (or delay) the progression of arthropathy and improve patient quality of life. Interestingly, recent data suggest a role for early prophylaxis also in preventing development of inhibitors, the most serious complication of treatment in hemophilia, in which multiple genetic and environmental factors may be involved. Treatment of bleeds in patients with inhibitors requires bypassing agents (activated prothrombin complex concentrates, recombinant factor VIIa). However, eradication of inhibitors by induction of immune tolerance should be the first choice for patients with recent onset inhibitors. The wide availability of safe factor concentrates and programs for comprehensive care has now resulted in highly satisfactory treatment of hemophilia patients in developed countries. Unfortunately, this is not true for more than two-thirds of persons with hemophilia, who live in developing countries.
Hemophilia A and B, the congenital deficiencies of coagulation factors VIII and IX, are characterized by recurrent joint and muscle bleeding episodes and progressive musculoskeletal damage (hemophilic arthropathy). Primary prophylaxis – that is, the regular infusion of factor concentrates after the first hemarthrosis and/or before 2 years of age – is now recognized as the first-choice treatment for children with severe hemophilia. Preventing bleeding from an early age enables avoidance of the clinical impact of hemophilic arthropathy and the consequences regarding psychosocial development and quality of life for these children. Interestingly, recent data suggest a role for early prophylaxis in also preventing inhibitor development, the most serious complication of treatment in hemophilia. Secondary prophylaxis, initiated after 2 years of age or after two or more joint bleeds, aims to avoid (or delay) the progression of arthropathy. In addition, better outcomes and better quality of life have been reported with earlier treatment. This review summarizes the evidence, current clinical strategies and open issues regarding prophylxis in children with hemophilia.
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