Quality of life in hemophilia

Haemophilia is a congenital bleeding disorder affecting about 1 out of 10,000 people in the general population. Haemophilia is characterized by post-traumatic and spontaneous bleeds, mainly in joints and muscles. Treatment is based on replacement of lacking factors by intravenous infusions when bleeding occurs or preventively. HR-QOL assessment is increasingly recognised as an important health outcome measure in haemophilia, which can help to optimise the treatment and to understand which treatment strategy fits the patients\u2019 needs best. HR-QOL instruments can be distinguished between generic vs. disease-specific measures and instruments for adults and for children. Although the modern management of haemophilia has improved over the last decades patients still can suffer from a burden of their disease regarding clinical (such as treatment complications, presence of inhibitors, pain and arthropathy), psychological (stress and coping, anxiety and depression, stigmatisation and discrimination) and economical aspects. For an adequate assessment of HR-QoL in haemophilic patients validated instruments are necessary. Only in the last 6 years disease-specific HR-QoL instruments have been developed for haemophilic children, namely the European Haemo-QoL, the Canadian CHO-KLAT, the American Quality of Life Questionnaire for Young Patients and for adult patients: the Medtap questionnaire (USA, Canada, Spain and Germany), the South American Hemolatin-QoL, the Italian Haem-A-QoL and the Spanish Hemofilia-QoL. Since treatment of haemophilia can impact on patients\u2019 HR-QoL the assessment of treatment satisfaction becomes quite important providing information for clinical trials and disease management programs. The first haemophilia-specific treatment satisfaction questionnaire for haemophilia patients is described (Hemo-SatA). Development and psychometric testing of these questionnaires is described in detail and revealed that all instruments are reliable and valid instruments which can be used in clinical trials. The choice of an instrument should be based on study-related and instrument-related issues. Results of HR-QoL studies are described concerning treatment effects, severity of the disease, complications and side effects and comparison with the general populatio