Developments in modern hemophilia care

Hassan, S. (2023)

Doctoral Thesis

Hemophilia is a rare X-linked hereditary bleeding disorder, caused by a mutation in the F8 or F9 gene. In the last 50 years, hemophilia treatment has changed tremendously and the impact of these changes on current clinical outcomes is unknown.
Therefore, we comprehensively assessed the changes in health status over time of patients with hemophilia using observational study data. Our results show that clinical outcomes of these patients have improved tremendously over the past decades. The annual bleeding rate and the proportion of patients with joint impairment have decreased strongly. In addition, HCV has almost been eradicated among patients with hemophilia in the Netherlands. As a result, life expectancy has increased to where it is almost equal to that of the general population.
Although clinical outcomes have improved in many ways, inhibitor development continues to be a significant problem in patients treated with clotting factor products. Therefore, using three different study approaches, we also evaluated several methods to better predict the risk of inhibitor development (which is still a significant complication of treatment with FVIII). The results of these studies are promising and could be used to improve current inhibitor prediction strategies and inform future research on this topic.

• Hemophilia
• Bleeding
• Hemarthrosis
• Bleeding-induced joint damage
• HCV
• HIV
• Inhibitor development

• All authors: Hassan, S.
• Supervisor: Rosendaal, F.R.; Bom, J.G. van der
• Co-supervisor: Gouw, S.C.
• Committee: Cannegieter, S.C.; Groenwold, R.H.H.; Voorberg, J.J.; Mannucci, P.M.
• Qualification: Doctor (dr.)
• Awarding Institution: Faculty of Medicine, Leiden University Medical Center (LUMC), Leiden University
• Date: 2023-01-24