Abstract
Paget's disease is a chronic focal high turnover bone disorder that is primarily present in middle-aged or older adults. It seems to be restricted to humans and has no clear parallels with other diseases. Although much has been learnt about its pathology and epidemiology, and treatment is now highly effective we still lack a complete understanding of its etiology and biology. This review focusses on the natural history of the disorder, in particular its changing epidemiology, recent discoveries about its genetic basis and current approaches to diagnosis and treatment. While there is strong evidence for genetic predisposition to Paget's disease, there is also compelling evidence that it is becoming less prevalent, the age of patients at presentation is increasing and that the extent of skeletal involvement is diminishing, implying that there is an important, but as yet unidentified, environmental factor in its etiology. Contemporary patients are typically elderly and have few bones involved. Treatment with potent intravenous bisphosphonates provides prolonged remission and many will require only once in a lifetime treatment.
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