Current and emerging treatments for the management of osteogenesis imperfecta

Osteogenesis imperfecta (OI) is the most common bone genetic disorder and it ischaracterized by bone brittleness and various degrees of growth disorder. Clinical severityvaries widely; nowadays eight types are distinguished and two new forms have been recentlydescribed although not yet classified. The approach to such a variable and heterogeneousdisease should be global and therefore multidisciplinary. For simplicity, the objectives oftreatment can be reduced to three typical situations: the lethal perinatal form (type II), inwhich the problem is survival at birth; the severe and moderate forms (types III–IX), in whichthe objective is ‘autonomy’; and the mild form (type I), in which the aim is to reach ‘normallife’. Three types of treatment are available: non-surgical management (physical therapy,rehabilitation, bracing and splinting), surgical management (intramedullary rod positioning,spinal and basilar impression surgery) and medical-pharmacological management (drugs toincrease the strength of bone and decrease the number of fractures as bisphosphonates or growthhormone, depending on the type of OI). Suggestions and guidelines for a therapeutic approachare indicated and updated with the most recent findings in OI diagnosis and treatment.