Paget's disease of bone (PDB) is a common skeletal disorder characterised by increased and disorganised bone remodelling affecting one or bone skeletal sites. Although about 20% of patients that come to clinical attention are asymptomatic others develop complications including bone pain, deformity, nerve compression syndromes and fragility fractures. Genetic factors play an important role in the pathogenesis of PDB and there is strong evidence that susceptibility is determined by variants within or close to genes that regulate osteoclast function. At the present time eight predisposing genes and loci have been discovered. Environmental factors also play a key role but little is known about the nature of these triggers. Bisphosphonates are a highly effective treatment for the elevations in bone turnover that are characteristic of PDB and are effective in the treatment of bone pain associated with Paget's disease but current evidence sugegsts that they do not prevent complications at least when administered to patients with established disease. Studies are currently in progress to determine if prophylactic treatment of patients with early asymptomatic disease might yield benefits in preventing the development of new lesions and perventing long term complications.
Disclosure of Interest None declared