Reprint: Paget's disease of bone

Objectives: To review recent advance in understanding the causation and management of Paget's disease.

Design and methods: We review recent publications concerning the aetiology of the disease and the use of biochemical markers of bone turnover in diagnosis and treatment.

Results: Epidemiologic studies suggest that Paget's disease is decreasing in prevalence and severity (implying that environmental factors are important) but there is also strong evidence of a genetic predisposition particularly through the SQSTM1 gene. Genome-wide association studies have identified polymorphisms at several other loci that are associated with the disease. Plasma alkaline phosphatase activity (ALP) is widely used, but less helpful in patients with disease of limited extent. Of the newer markers, plasma procollagen-1 N-peptide (PINP) performs best. Treatment with potent bisphosphonates usually produces long-term remission.

Conclusions: Both genetic and environmental factors appear to be important in the aetiology of Paget's disease. Effective long-term disease suppression can be achieved with bisphosphonate treatment.