Bone Abstracts

Osteogenesis imperfecta (OI) is a systemic connective tissue caused by mutations in collagen type 1 related genes. Patients with OI suffer from multiple fractures and various degrees of growth deficiency and bone deformity. Other symptoms are early hearing loss, abnormal dental tissue and hypermobility. It is not known whether the systemic effect of a defect collagen type 1 influences the quality of life in people with OI. We aimed to investigate health related quality of life (HRQoL) in a well characterized cohort of adults with OI, and hypothesized that there was no difference in HRQoL in adults with mild, moderate and severe OI compared with an adult population without OI.

We examined 85 adult patients with mild to severe OI and obtained information physical and mental HRQoL by the SF-36 questionnaire, and compared the data to investigations of HRQoL in the general population.

All patients with OI, regardless of severity, had significantly lower mean scores in domains describing physical HRQoL and lower mean physical component scores compared to the general population (Table 1). In addition, patients with severe OI had the lowest mean score on physical HRQoL. On the contrary mental health score did generally not differ between OI groups or compared to the general population.

OI has an impact on physical HRQoL. The scores on physical health were correlated to severity of the OI disease. Surprisingly, the mental scores in the OI patients were generally comparable to a normal reference population.