Osteogenesis imperfecta in adults: phenotypic characteristics and response to treatment in an Irish cohort

Background Osteogenesis imperfecta (OI) is a heritable disorder of variable phenotype that is characterised by bone fragility and frequent fractures, with deformities and short stature in more severe cases. Aims We sought to review the response to treatment in a cohort of adult patients with OI. Methods Charts of 16 patients with OI attending a metabolic bone disease clinic were reviewed, particularly with respect to the response to treatment using bisphosphonates and recombinant human parathyroid hormone (rhPTH). The response to treatment was assessed by monitoring bone mineral density (BMD) and bone turnover markers (BTMs). Results In response to bisphosphonate therapy, median (range) BMD increased at the spine by 15.1(6.9–43.7) %. In response to rhPTH in 2 cases, spinal BMD increased by 40.3 and 27.2 %. Conclusion OI is debilitating disorder, but the course of the disease may be altered by treatment that increases BMD such as bisphosphonates and rhPTH. Both serial BMD and BTM aid in assessing response to intervention. Further study is needed with regard to fracture prevention.