Past, present and future of hemophilia: a narrative review

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.

von Willebrand factor binds to the surface of dendritic cells and modulates peptide presentation of factor VIII

“…1 Endocytosis of FVIII by antigen-presenting cells is the initial step in this process, which can eventually lead to the development of long-living plasma cells which produce antibodies against FVIII. 25 While VWF has been shown to modulate FVIII endocytosis by DCs, to our knowledge, no data regarding the interaction of VWF with iDCs have been described.…”

“…Patients are treated with regular intravenous injections of FVIII concentrates. 1 Approximately 25% of the severe hemophilia A patients [defined as <1 IU/dL (<1% FVIII activity)] develop inhibitory antibodies against FVIII. Both genetic and non-genetic risk factors for inhibitor formation have been identified.…”

Calidad de vida: un aspecto olvidado en el paciente con hemofilia

“…Por otra parte, eventos que se presentan durante el desarrollo de la historia natural de la enfermedad igualmente se relacionan con la CVRS; Dekoven et al describe que los pacientes que desarrollan anticuerpos tienen un menor puntaje en la calidad de vida con respecto a los que no desarrollan anticuerpos, y que entre los que si los desarrollan, la calidad de vida empeora a medida que se envejece [9,16,28].…”

A Preliminary Study of Age and Sex of People with Hemophilia

“…Repeated haemarthroses lead to arthropathy [3]. Nowadays, hemophilia is harmful, distributed widely and lack of effective treatment measure [7], which causes great pain, burden and economic crisis to patients and their family. In order to supply assistance treatment information of hemophilia, many researchers have studied demographic characteristics, quality of life, age, sex, etc.…”