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Clinical Presentation of Paget’s Disease: Evaluation of a Contemporary Cohort and Systematic Review

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Abstract

Paget’s disease of bone (PDB) has become less common over recent decades but it is unclear if this has impacted on clinical presentation. Here we evaluated the presenting features of PDB in a contemporary cohort of UK patients and conducted a systematic review of studies in which the presenting features had been reported. The case series comprised 88 patients referred to a specialist clinic between 2005 and 2013. Bone pain was the most common presenting feature occurring in 73.8 % of patients. Others included bone deformity (18.1 %), deafness (7.9 %) and pathological fracture (5.7 %). The disease was asymptomatic in 22 % of cases. Antiresorptive treatment was given for pain in 34 cases and 61.7 % of patients responded. Patients with a shorter disease duration were more likely to respond (p = 0.047). In the systematic review, bone pain was the most common presenting feature (52.2 % of cases) followed by deformity (21.5 %), deafness (8.9 %) and fracture (8.5 %). Time trend analysis in subjects of European descent showed that fracture was less common in studies performed during the past 25 years as compared with older studies (5.5 vs. 10.8 % p < 0.001) whereas pain was more common (54.3 vs. 48.3 %, p = 0.003). While changes in the mode of presentation of PDB have occurred over recent years, many patients present with complications such as fracture and deformity. Further research is required to determine if early detection and therapeutic intervention might be of value in preventing the morbidity associated with this common disease.

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Acknowledgments

We thank Mica Petrakis for performing the SQSTM1 mutation screening. This study was supported in part by a grant from Arthritis Research UK (reference 19799).

Conflict of Interest

Stuart H. Ralston reports having received consulting fees on behalf of his institution from Merck and Novartis and research grant funding from Amgen, Arthritis Research UK and the Medical Research Council. Adrian Tan has no conflicts of interest to declare.

Human and Animal Rights and Informed Consent

Ethical approval was not sought for this study since the data presented were collected during the course of routine clinical care. The patients provided consent for their medical records to be reviewed as part of routine care. The study did not involve experimental animals.

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  1. Rheumatology and Bone Disease Unit, Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, University of Edinburgh, Edinburgh, EH4 2XU, UK

    Adrian Tan & Stuart H. Ralston

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  1. Adrian Tan
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Correspondence to Stuart H. Ralston.

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Tan, A., Ralston, S.H. Clinical Presentation of Paget’s Disease: Evaluation of a Contemporary Cohort and Systematic Review. Calcif Tissue Int 95, 385–392 (2014). https://doi.org/10.1007/s00223-014-9904-1

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