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The Changing Presentation of Paget’s Disease of Bone in Australia, A High Prevalence Region

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Abstract

Studies from several countries suggest that the incidence of Paget’s disease of bone (PDB) and the severity of newly diagnosed cases are declining. The aim of this study was to examine secular changes in clinical presentation of PDB in Australia, which historically had the highest prevalence outside the United Kingdom. The participants were 293 patients (61% male) diagnosed between 1956 and 2013 with details recorded in the database of the Paget’s Disease Research Group of Western Australia. The mean age at diagnosis was 62 years (range 28–90); 26% of participants had a family history of PDB and 11% had Sequestosome 1 (SQSTM1) mutations. After adjustment for covariates (SQSTM1 mutation status, family history, country of birth, smoking and dog exposure), there was a significant positive relationship between year of diagnosis and age at diagnosis (P < 0.001) and significant negative relationships between year of diagnosis and both pre-treatment total plasma alkaline phosphatase activity (ALP) and number of involved bones (P < 0.001 for each). Patients with SQSTM1 mutations had more extensive disease (P < 0.001) and higher pre-treatment ALP (P = 0.013). In subgroup analyses, relationships between year of diagnosis and each of age at diagnosis, number of involved bones and ALP were similar in patients with sporadic or familial disease, and in patients with and without SQSTM1 mutations. We conclude that the severity of PDB in Western Australia has declined over recent decades. This is likely to reflect altered exposure to one or more environmental agents involved in pathogenesis.

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Authors and Affiliations

  1. Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA, 6009, Australia

    Cameron Britton, Suzanne Brown, Lynley Ward, Sarah L. Rea, Thomas Ratajczak & John P. Walsh

  2. Neurogenetic Diseases Laboratory, Harry Perkins Institute of Medical Research, The University of Western Australia, Crawley, WA, 6009, Australia

    Sarah L. Rea

  3. School of Medicine and Pharmacology, The University of Western Australia, Crawley, WA, 6009, Australia

    John P. Walsh

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  1. Cameron Britton
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  2. Suzanne Brown
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Correspondence to John P. Walsh.

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Conflict of interest

Cameron Britton, Suzanne Brown, Lynley Ward, Sarah L. Rea, Thomas Ratajczak, and John P. Walsh declare that they have no conflicts of interest. The authors have full control of all primary data and agree to allow review of their data if requested.

Human and Animal Rights and Informed Consent

The Sir Charles Gairdner Group Human Research Ethics committee approved this study and all patients gave informed consent.

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Britton, C., Brown, S., Ward, L. et al. The Changing Presentation of Paget’s Disease of Bone in Australia, A High Prevalence Region. Calcif Tissue Int 101, 564–569 (2017). https://doi.org/10.1007/s00223-017-0312-1

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  • DOI: https://doi.org/10.1007/s00223-017-0312-1

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