135 Chapter 7 milder forms of OI (types 1 and 4). The best methods to improve the physical domains of quality of life in OI have not yet been specified in detail. In general terms, physical domains of quality of life can be improved by physical training 44,45, surgery 46, rehabilitation, and occupational therapy 44,46–48. The most appropriate intervention needs to be considered at the individual patient level. Fatigue is often a major source of disability and is often reported as one of the most severe symptoms by patients with significant disease 49–54. However, fatigue in OI has not been studied thoroughly. The studies that have been conducted also suggest that the quality of life of people with OI is negatively affected by functional limitations due to tiredness and fatigue 55–57. In Chapter 3 we looked at the level of fatigue in people with OI, comparing the level of fatigue in people with OI with a healthy American and a healthy Dutch control population 58,59. A significant difference was found between the OI group and the control population. The differences in scores between the OI cohort and the control population also exceeded the Minimal Clinically Important Difference (MCID) values that have been determined for chronic patient groups with systemic lupus erythematosus and rheumatoid arthritis 60,61. The MCID refers to the smallest difference in a score that is considered important for the patient 62. Part 2. Bleeding and bruising in Osteogenesis Imperfecta Bleeding and bruising is a common complaint of OI patients, but it is not clearly addressed in the literature. Chapters 4, 5 and 6 of this thesis have attempted to objectify and clarify increased bleeding tendency and bruising in OI. What is the prevalence of bleeding tendency in OI compared to a control population? Chapter 5 states that 42% of patients with OI have a history of bleeding, which is more common than in the reference population 63. This is in line with earlier estimates that persons with OI have more problems with bleeding 64,65. In addition, potentially life-threatening bleeding occurred in 23% of the total cohort of OI patients (Chapter 5). Bleeding tendency is an umbrella term for experiencing bleeding symptoms more than normal. Severe bleeding requiring a major medical intervention, i.e. surgery to stop a bleeding, and/or a blood transfusion is called bleeding that is potentially life-threatening. Normal bleeding tendency has been established previously in studies 63,66. A number of case report studies and a very limited number of cohort studies have reported varying degrees of bleeding in OI patients, ranging from minor bruising to life-threatening bleeding 65,67–73.
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