Health-Related Quality of Life in Adults with Osteogenesis Imperfecta
Osteogenesis imperfecta (OI) is a systemic connective tissue disorder most often 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. It is unknown whether the systemic effect of defect collagen type 1 influences the quality of life in patients with OI. We therefore aimed to investigate health-related quality of life (HRQoL) in a well-characterized cohort of adult patients with OI. We included 85 adult patients with mild to severe OI (types I, III, and IV) and obtained information about skeletal- and non-skeletal phenotypes and patient demographics. We investigated physical and mental HRQoL using a validated questionnaire, SF-36, and compared the data to values obtained in a population without OI. Patients with mild, moderate, and severe OI all had lower mean scores on domains describing physical HRQoL and a lower mean physical component score compared to the general population, p < 0.001. Patients with severe OI had lower mean scores on physical HRQoL, p < 0.05. The scores on domains reflecting mental HRQoL were more inhomogenously affected, but did not differ significantly from the general population. OI has an impact on physical and some aspects of mental HRQoL. The scores on physical health were correlated to severity of the OI disease. The mental component score in the OI patients was unaffected and comparable with the general population.
KeywordsOsteogenesis imperfecta HRQoL SF36 Physical health Mental health
We thank Dorte Haubek and Hans Gjørup for performing dental examinations, Christer Zøylner Swan and Jens Wanscher for performing audiologic evaluations, and Christian-Heinrich Leonhard for performing eye examinations. Grant supporters: Central Region of Denmark, Osteoporoseforeningen, Denmark
JDH, TH, and BL designed the study. JDH conducted the study and prepared the first draft of the paper. JDH is responsible for statistical analysis of the data. All authors contributed substantially, revised the paper critically, and approved the final version of the paper. JDH is the guarantor.
Compliance with Ethical Standards
Conflict of interest
LF reports having received speaker fees from Genzymes and AstraZeneca. TH reports having received speaker fees from Amgen. BL reports advisory board membership and having received speaking fees from Amgen, Eli Lilly, Merck, and UCB and research support from Eli Lilly, Novo Nordisk, and Orkla Health. KB reports having received grants from MSD, Novartis, Amgen, and NPS. JDH has no interests to declare.
Human and Animal Rights and Informed Consent
The study complied with ethical standards of research involving human participants and was approved by the Danish Ethical Committee (ref-number M-20100108). Informed consent was obtained from all patients.
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