Besides osteogenesis imperfecta, several genetic diseases may cause alterations in bone metabolism, with low bone mass, low bone strength, and fragility fractures. Some other diseases are instead characterized by bone formation outside the skeletal system (heterotopic ossification). Although little data are available, and mainly from case reports and not from controlled studies on significantly large samples, bisphosphonates seem to be effective to increase bone mass, reduce the risk of fractures, alleviate bone pain, and even, in some measure, hinder the formation of heterotopic bone. Only for the more common diseases, like Duchenne muscular dystrophy and cystic fibrosis, there are sufficient data to recommend the prudent use of BPs as a standard treatment of bone complications.
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