Paget's disease of bone

Area of Science:

• Bone biology and genetics
• Rheumatology and metabolic bone disease

Background:

• Paget's disease of bone affects up to 4% of Australians over 55.
• Its incidence and severity are decreasing, with unknown causes.
• Genetic factors, including sequestosome 1/p62 gene mutations, are implicated.

Purpose of the Study:

• To review the epidemiology, causes, and treatment of Paget's disease of bone.
• To discuss the role of bisphosphonates in managing the condition.
• To evaluate current treatment guidelines and suggest extensions.

Main Methods:

• Literature review of Paget's disease of bone.
• Analysis of genetic associations and epidemiological trends.
• Evaluation of bisphosphonate efficacy and treatment protocols.

Main Results:

• Paget's disease is common in older Australians but declining.
• Mutations in sequestosome 1/p62 gene are linked to familial and sporadic cases.
• Bisphosphonates effectively treat symptomatic disease and reduce complications.

Conclusions:

• Paget's disease is treatable with bisphosphonates.
• Current treatment subsidies focus on symptomatic patients.
• Consideration should be given to treating asymptomatic patients with specific risk factors.