Haemophilia is a X-linked inherited disease caused by deficient factor VIII or IX which causes spontaneous and trauma-related bleeding.
Historically, research in this area was focused on factor replacement therapy, which resulted in a gigantic improvement in life expectancy. As these patients are getting older, they are more likely to develop chronic complications such as arthropathy due to recurrent joint bleeds. This thesis aims to further explore the pathophysiology, develop tools for early detection and prevention of joint alterations and improve therapeutic interventions. The ultimate goal is more targeted and personalized medicine.
This thesis focus on the prediction of hemophilic arthropathy (biomarkers and genetic variations) and the intervention in hemophilic arthropathy (pre-clinical and clinical studies).