Hemophilia : a disease on the move

Authors: Péters, P. and Gothot, A.

Publication: Rev.Med Liege; 75,5-6:322-328. June 2020

Affiliations: Service d’Hématologie biologique et Immunohématologie, CHU Liège, Belgique.

Abstract: Over the last hundred years, the treatment of hemophilia has evolved considerably. To date, its principle is still to prevent the occurrence of hemorrhages by regular intravenous injections of factor VIII or IX concentrate. It allows reaching a life expectancy similar to the general population. The quality of life is constantly improving despite the constraint imposed by the modality and frequency of injections. The main complication remains the development of antibodies that inhibit the administered factors. Concentrates of long-acting factors are now available allowing limiting for example the frequency of injections. A bispecific monoclonal antibody reproducing the action of factor VIII and injectable subcutaneously has recently become available to hemophilia A patients, with the advantage of being effective even in the presence of inhibitors. Other non-substitute products are being studied offering interesting leads. Finally, gene therapy shows promising results, giving hope for access to this therapeutic option in a relatively near future. These advances are, however, a challenge for clinical laboratories, which must adapt their measurement techniques to ensure optimal monitoring. The future is on its way for hemophilia. Treatment remains expensive but it is worth the price.