Osteogenesis imperfecta: from diagnosis and multidisciplinary treatment to future perspectives

Osteogenesis imperfecta is an inherited connective tissue disorder with wide phenotypic and molecular heterogen- eity. A common issue associated with the molecular ab- normality is a disturbance in bone matrix synthesis and homeostasis inducing bone fragility. In very early life, this can lead to multiple fractures and progressive bone de- formities, including long bone bowing and scoliosis. Mul- tidisciplinary management improves quality of life for pa- tients with osteogenesis imperfecta. It consists of physical therapy, medical treatment and orthopaedic surgery as ne- cessary. Medical treatment consists of bone-remodelling drug therapy. Bisphosphonates are widely used in the treat- ment of moderate to severe osteogenesis imperfecta, from infancy to adulthood. Other more recent drug therapies include teriparatide and denosumab. All these therapies target the symptoms and have effects on the mechanical properties of bone due to modification of bone remodel- ling, therefore influencing skeletal outcome and orthopaed- ic surgery. Innovative therapies, such as progenitor and mesenchymal stem cell transplantation, targeting the spe- cific altered pathway rather than the symptoms, are in the process of development.