Osteogenesis imperfecta (OI) is the most common form of primary osteoporosis, with an estimated prevalence of 1 in 12,000 to 1 in 15,000 children. It has a broad clinical phenotype, from significant bone deformities, multiple fractures and short stature to mild clinical forms without fractures. There is an expanding list of pathogenic genetic variants found to be associated with OI with increased understanding about phenotypic and treatment responsive differences by genotype.
The management of children with OI aims to maximise mobility and daily life competencies, decrease bone pain and fragility and monitor for known associated skeletal and non-skeletal clinical features of OI. This ideally involves multi-disciplinary teams to help provide rehabilitation, surgical and pharmacological treatments. In children with OI with recurrent fractures, bisphosphonate therapy is often initiated and usually continued until the end of linear growth.
Transitioning to adult care can present challenges with navigating new health systems and taking more ownership and independence with personal health care. As youth with OI pass puberty and enter adulthood, there is most commonly a decline in the rate of peripheral fractures. Other non-skeletal clinical features of OI, can however increase over time.
In this session we will discuss some of the management considerations, unanswered questions and challenges in transitioning youth with OI to adult care.