Quality of life and bleeding in osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a rare congenital connective tissue disease, also known as "britle bone disease", because it leads to fragile bones and a high incidence of fractures. In most cases, britle bones are caused by decreased and/or abnormal production of collagen type 1 production due to a dominant pathogenic variant in either the COL1A1 or COL1A2 gene. This collagen type 1 problem not only affects bone fragility, but also causes other symptoms throughout the body that affect quality of life. Frequently mentioned symptoms, such as easy bruising and fatigue, have not been well studied. The aim of this thesis was to better understand the quality of life and bleeding tendency in individuals with OI.
Part 1 examined quality of life in adults with OI using patient-reported questionnaires that explore different dimensions of quality of life. In conclusion, a multidisciplinary, individualised, and holistic approach is important in the care for individuals with OI, and interventions need to be focused on improving the quality of life.
Part 2 focused on different aspects of bleeding in persons with OI, such as the prevalence of anamnestic increased bleeding tendency and possible underlying coagulation disorders. In conclusion, bleeding tendency is a common complication in OI and can be a significant clinical challenge. The pathophysiology of bleeding tendency in OI is not well understood and further research is needed. The management of bleeding episodes in OI patients requires an individualized approach, and in this context the use of antifibrinolytics and coagulation factors may be helpful.