Current and emerging treatments for the management of osteogenesis imperfecta

Ther Clin Risk Manag. 2010 Sep 7:6:367-81. doi: 10.2147/tcrm.s5932.

Abstract

Osteogenesis imperfecta (OI) is the most common bone genetic disorder and it is characterized by bone brittleness and various degrees of growth disorder. Clinical severity varies widely; nowadays eight types are distinguished and two new forms have been recently described although not yet classified. The approach to such a variable and heterogeneous disease should be global and therefore multidisciplinary. For simplicity, the objectives of treatment can be reduced to three typical situations: the lethal perinatal form (type II), in which the problem is survival at birth; the severe and moderate forms (types III-IX), in which the objective is 'autonomy'; and the mild form (type I), in which the aim is to reach 'normal life'. 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 to increase the strength of bone and decrease the number of fractures as bisphosphonates or growth hormone, depending on the type of OI). Suggestions and guidelines for a therapeutic approach are indicated and updated with the most recent findings in OI diagnosis and treatment.

Keywords: adult onset deafness; blue sclerae; bone brittleness; bone genetic disorder; connective tissue malfunction; dentinogenesis imperfecta; joint laxity; osteogenesis imperfecta; progressive skeletal deformities; short stature; “brittle bone disease”.