Treatment Strategies in Children with Hemophilia

Abstract

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.

Identifying and overcoming barriers to prophylaxis in the management of haemophilia

“…Coagulation factor replacement therapy can be administered on demand, given at the time of bleeding or administered as short‐ or long‐term prophylaxis through regular, continuous intravenous administration of coagulation factor concentrate (CFC) aimed at preventing future bleeds, which can be started before or soon after the first joint bleed [1]. Treatment regimens vary in different countries, depending on the availability of resources and the level of development of the healthcare system [2].…”

Clinical experience with Optivate®, high‐purity factor VIII (FVIII) product with von Willebrand factor (VWF) in young children with haemophilia A

“…The ultimate aim of haemophilia treatment is to stop and prevent bleeding episodes, especially life‐threatening joint and muscle bleeds. Patients with severe haemophilia experience recurrent bleeding into the joints and can develop disabling arthropathy, so starting treatment at an early age before the onset of joint damage can improve the quality of life for haemophiliacs [1,18,19]. The on‐demand group reported all the major bleeds and had a higher overall bleed rate than the prophylactic group (prophylactic group mean bleed rate was 8.0/child; on‐demand group bleed rate was 13.4/child), which supports the effectiveness of Optivate ® .…”

“…There is also a risk of fatal cerebral haemorrhage. FVIII replacement therapy has progressed from necessary hospital treatment to home therapy [1]. Many measures have been implemented to minimize viral transmission including donor screening and virus eradication steps during manufacturing [2,3].…”

Large hemorrhage due to venipuncture in the elbow of a patient with severe hemophilia: A case report and literature review

“…[1][2][3][4][5]. Intraoperatively, the lesion appeared initially tough with various stages of liquid and solid dark blue hemorrhage.…”