Review,
Osteogenesis Imperfecta: Skeletal and Non-skeletal Challenges in Adulthood
Affiliations
- [1] Aarhus University Hospital [NORA names: Central Denmark Region; Hospital; Denmark; Europe, EU; Nordic; OECD];
- [2] Aarhus University [NORA names: AU Aarhus University; University; Denmark; Europe, EU; Nordic; OECD];
- [3] Odense University Hospital [NORA names: Region of Southern Denmark; Hospital; Denmark; Europe, EU; Nordic; OECD];
- [4] University of Southern Denmark [NORA names: SDU University of Southern Denmark; University; Denmark; Europe, EU; Nordic; OECD];
- [5] Sunnaas Rehabilitation Hospital [NORA names: Norway; Europe, Non-EU; Nordic; OECD];
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Abstract
Osteogenesis imperfecta (OI) is a Mendelian connective tissue disorder associated with increased bone fragility and other clinical manifestations most commonly due to abnormalities in production, structure, or post-translational modification of type I collagen. Until recently, most research in OI has focused on the pediatric population and much less attention has been directed at the effects of OI in the adult population. This is a narrative review of the literature focusing on the skeletal as well as non-skeletal manifestations in adults with OI that may affect the aging individual. We found evidence to suggest that OI is a systemic disease which involves not only the skeleton, but also the cardiopulmonary and gastrointestinal system, soft tissues, tendons, muscle, and joints, hearing, eyesight, dental health, and women’s health in OI and potentially adds negative affect to health-related quality of life. We aim to guide clinicians as well as draw attention to obvious knowledge gaps and the need for further research in adult OI