Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent trauma. It is caused by a genetic defect that affects the body’s production of collagen, which is the major protein in connective tissue. Although most adults with OI experience a decrease in the rate of fractures (broken bones) after puberty, other medical problems, some of which are related to the basic genetic defect that causes OI, may require more attention.
For example, adults with OI should be concerned about weight gain, diabetes, cholesterol, and other cardiovascular problems such as high blood pressure (hypertension). Tendon, muscle, and joint problems may be aggravated with time, and hearing loss may become significant. Vigorous and consistent medical care for OI remains as important in adulthood as it is during childhood.
Adults with OI not only need to manage all of the same health issues as other adults, but also must cope with the musculoskeletal concerns associated with OI.