The management of osteogenesis imperfecta in adults: state of the art

Abstract Osteogenesis imperfecta (OI) is a genetic disease whose clinical phenotype and severity vary considerably. The increased risk of fractures due to bone fragility persists in adulthood, notably after 40 years of age, albeit at a lower level than during growth. Adults with OI require periodic evaluations of the other manifestations of OI including hearing loss, respiratory impairments, ocular and dental abnormalities, and cardiovascular disease. Follow-up should therefore be provided by a multidisciplinary team, at intervals tailored to disease severity. Currently used treatments for OI have not been proven to decrease the fracture risk but are consistently effective in increasing bone mineral density. Specific orthopedic expertise is often required to treat fractures in patients with OI. A combination of periodic evaluations, chronic pain control, and disability management is necessary to improve quality of life.