Clinical presentation of Paget's disease

The following is a summary of Dr Tan and Professor Ralston’s paper: Clinical Presentation of Paget's Disease: Evaluation of a Contemporary Cohort and Systematic Review. [2014]

Dr Adrian Tan and Professor Stuart Ralston evaluated the presenting features of Paget’s disease in 88 UK patients referred to a specialist clinic between 2005 and 2013. In 22% of patients there were no symptoms demonstrating that in some people Paget’s disease does not cause health problems. The majority of patients, however, did have symptoms. 

Bone pain was found to be the most common, occurring in 74% of patients. In three-quarters of these patients the pain was considered to be due to the Paget’s disease and in one-quarter co-existing osteoarthritis. Bisphosphonate treatment was given for pain in thirty four cases and about two-thirds of patients responded positively with an improvement in pain. 

Patients who had had Paget’s for a shorter length of time were more likely to respond. Unfortunately, a number of patients already had complications by the time the diagnosis was made. Bone deformity was found in 18%, deafness in 8%, and fracture caused by Paget’s disease in 6%. The authors commented that this finding emphasised the importance of making the diagnosis early in Paget’s disease, before complications had occurred.

The authors also conducted a systematic review of studies in which the presenting features had been reported. Bone pain was again the most common presenting feature (52% of cases) followed by deformity (21%), deafness (9%) and fracture (8%).

The authors concluded that although current treatments are effective, some patients don’t respond well because the disease is too advanced. They commented that further research is required to determine if earlier detection and treatment might benefit people at risk of developing Paget’s disease, especially people with a family history of the disease.

Research is already in progress to find out more about this issue. The ZiPP study (Zoledronate in the Prevention of Paget’s) trial aims to determine if genetic testing can be combined with bisphosphonate therapy to prevent or delay the onset of Paget’s disease in people with abnormalities of the SQSTM1 gene. This research is being carried out by Professor Ralston and his team in Edinburgh with the support of the Medical Research Council and Arthritis Research UK. 

When asked about the results Professor Ralston commented: “The recent study, which was led by Dr Adrian Tan, shows that we cannot be complacent about Paget’s disease. Although we now have very good treatments for Paget’s it is important that they are given early enough to prevent complications developing, since when they are present they are impossible to reverse. The ZIPP study is important since it will provide a proof of concept that complications can be prevented. If successful the same approach could be used for other people with a family history of Paget’s who do not have SQSTM1 abnormalities”

Reference: Tan, A., Ralston, S.H., (2014), Clinical Presentation of Paget's Disease: Evaluation of a Contemporary Cohort and Systematic Review, Calcified Tissue International, Aug 27.

The above summary was published in Paget's News, the magazine of the Paget's Association in Nov. 2014.