Osteogenesis imperfecta: classification, clinical features, and treatment

Osteogenesis imperfecta (OI) is a monogenic disorder characterized by increased bone fragility and several extraskeletal manifestations. In most cases, OI is caused by mutations in one of the two genes encoding alpha chains of type I collagen, COL1A1 or COL1A2. Mutations in at least 20 other genes can also lead to OI. Clinical manifestation of the disease ranges from mild to severe form with possible perinatal lethality. The disease may significantly reduce patient’s quality of life, which requires timely and optimal treatment and a multidisciplinary approach. Currently, the therapeutic treatment of osteogenesis imperfecta is symptomatic, but the search for new treatment strategies aimed at preventing the risk of new fractures and the progression of bone deformity continues. Key words: аnabolic therapy, antiresorptive therapy, сollagen, osteogenesis imperfecta, fracture