Towards achieving a haemophilia-free mind

Authors: Hermans, C; Pierce, GF

Affiliations: Division of Haematology, Haemostasis and Thrombosis Unit, Saint-Luc University Hospital, Université catholique de Louvain (UCLouvain), Brussels, Belgium. World Federation of Hemophilia, Montreal, Canada.

Publication: Haemophilia; 2023 June

Abstract: Never in history has haemophilia research generated so many therapeutic innovations. Beyond the prevention of bleeding complications, these new treatment options should fundamentally change the lives of those who face this disease. Haemophilia is defined as a partial or complete deficiency of coagulation factor VIII (FVIII) or IX (FIX). These deficiencies are responsible for haemorrhagic manifestations with predilection for muscles and joints. In patients with complete or near-complete deficiency, these haemorrhages occur spontaneously. Intra-articular bleeding episodes result in painful and disabling joint destruction. With minimal or no treatment, morbidity and mortality are high. The classic treatment for haemophilia is the provision of intravenous FVIII or FIX replacement therapy. The aim is to permanently maintain a minimum amount of FVIII or FIX in the blood, thus preventing spontaneous bleeding complications. The standard half-life of these clotting factors, the need to administer them intravenously on a recurrent basis and their immunogenicity are all obstacles and constraints associated with replacement therapy. Subclinical bleeding at low trough levels has been underappreciated despite conclusive evidence published in the Joint Outcome Study in 2007.