Bisphosphonates in Osteogenesis Imperfecta

Abstract

Osteogenesis Imperfecta (OI) is a rare heritable condition characterized by bone fragility and reduced bone mass. Most affected individuals carry a mutation that compromises the synthesis and/or the structural organization of type I collagen. Histologically there is a picture of osteoporosis with increased remodeling rate. On that basis, bisphosphonate treatment was introduced, and definite benefits, in terms of pain control, fracture incidence and degree of ambulation, became rapidly evident. Cyclical intravenous pamidronate is now the standard of care for moderate/severe OI in combination with appropriate orthopedic corrections and rehabilitation programs. While it is amply demonstrated that the use of bisphosphonates in OI is effective and safe for the short term (4–5 years), their long term effects are still under investigation.