Present and future challenges in the treatment of haemophilia: the patient’s perspective

Haemophilia is a rare bleeding disorder, caused by a mutation in the genes for factor VIII (Haemophilia A) and factor IX (Haemophilia B). Patients with severe haemophilia, with a factor plasma level of 1% or less, are affected by frequent episodes of spontaneous or excessive bleeding into joints and muscles. The current management of haemophilia is based on treatment with plasma-derived and recombinant factor VIII (FVIII) or factor IX products (FIX)1. Home treatment has shown to improve both life expectancy and quality of life of patients with haemophilia and other inherited coagulation disorders (PWH), with a reduction of musculoskeletal damage2.