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Paget's disease of bone
1Department of Medicine, Faculty of Medical & Health Sciences, University of Auckland, New Zealand.
Insights
Paget
Area of Science:
- Bone biology and metabolic disorders
- Human genetics and epidemiology
Background:
- Paget's disease is a chronic, focal, high-turnover bone disorder affecting middle-aged and older adults.
- Etiology and precise biology remain incompletely understood despite effective treatments.
- The disease appears unique to humans.
Purpose of the Study:
- To review the natural history of Paget's disease.
- To discuss changing epidemiology, genetic discoveries, and current diagnostic and treatment strategies.
- To explore the interplay of genetic predisposition and potential environmental factors.
Main Methods:
- Review of existing literature on Paget's disease.
- Analysis of epidemiological trends, genetic associations, and treatment outcomes.
- Focus on the disorder's natural history and evolving clinical presentation.
Main Results:
- Strong evidence supports a genetic predisposition to Paget's disease.
- Epidemiological data indicate decreasing prevalence, increasing age at presentation, and reduced skeletal involvement.
- Contemporary patients are older with less extensive bone involvement.
Conclusions:
- Paget's disease is becoming less prevalent, suggesting an unidentified environmental factor.
- Effective treatment with intravenous bisphosphonates offers prolonged remission, often requiring only one lifetime treatment.
- Further research is needed to fully elucidate the etiology and biology of Paget's disease.
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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