Abstract
Background
While clinical observations suggest that many patients with mucopolysaccharidosis (MPS) experience chronic pain, few studies have assessed its extent and impact. We therefore investigated its prevalence in patients with all types of MPS in the Netherlands. We also examined the association between pain and health related quality of life (HRQoL) and other clinical variables.
Methods
We conducted a nationwide MPS survey that used questionnaires on MPS and disease-related symptoms (MPS-specific questionnaire), developmental level (Vineland Screener 0–6 years), quality of life (PedsQl and SF-36), and disability (Childhood Health Assessment Questionnaire). Depending on their age and developmental level, patients or their parents were asked to assess pain by keeping a pain diary for five consecutive days: either the Non-communicating Children’s Pain Checklist – Revised (3–18 years intellectually disabled and children <8 years), the VAS-score (> 18 years), or the Faces Pain Scale – Revised (8–18 years).
Results
Eighty-nine MPS patients were invited, 55 of whom agreed to participate (response rate 62 %; median age 10.9 years, range 2.9–47.2 years). They covered a wide spectrum in all age groups, ranging from no pain to severe pain. Forty percent scored above the cut-off value for pain. Most reported pain sites were the back and hips. While the MPS III group experienced the highest frequency of pain (52.9 %), 50 % of patients with an intellectual disability seemed to experience pain, versus 30 % of patients with a normal intelligence. MPS patients scored much lower (i.e., more pain) than a random sample of the Dutch population on the bodily pain domain of the SF-36 scale and the PedsQl.
Conclusion
With or without intellectual disabilities, many MPS patients experience pain. We recommend that standardized pain assessments are included in the regular follow-up program of patients with MPS.
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Acknowledgments
The authors would like to thank all patients and their parents for participating in this study and David Alexander for critical review of the manuscript. Ans Groener and Annemarie van Weijen from the Morquio patient organization for the enthusiasm and the distribution of the questionnaires. Financial support was obtained from the European Union, 7th Framework Programme ‘Euclyd – a European Consortium for Lysosomal Storage Diseases’ [health F2/2008 grant agreement 201678], ZonMw – Dutch organization for healthcare research and innovation of care [Grant 152001003 and 152001004] and the European Union’s Seventh Framework Programme [FP7/2007–2013] under grant agreement n˚ 304999.
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Conflict of interest
Since August 2004, Ans van der Ploeg has provided consulting services for Genzyme Corp., Cambridge, MA, USA, under an agreement between Genzyme Corp. and Erasmus MC, Rotterdam, the Netherlands. Erasmus MC and inventors for the method of treatment of Pompe disease by enzyme-replacement therapy receive royalty payments pursuant to Erasmus MC policy on inventions, patents and technology transfer. Carla Hollak has acted occasionally as consultant for Genzyme, Shire HGT, Actelion, or Protalix and received reimbursement of travel costs and fees for invited lectures. Jaap Jan Boelens has acted as a consultant for GSK. Marion Brands, Deniz Güngör, Hannerieke van den Hout, Francois Karstens, Esmee Oussoren MD, Iris Plug, Peter van Hasselt, Margot Mulder, Estela Rubio Gozalbo, Jan Smeitink, G. Peter Smit, Frits Wijburg and Hanka Meutgeert declare that they have no conflict of interest.
Informed consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.
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Communicated by: Marc Patterson
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Brands, M.M.G., Güngör, D., van den Hout, J.M.P. et al. Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey. J Inherit Metab Dis 38, 323–331 (2015). https://doi.org/10.1007/s10545-014-9737-0
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DOI: https://doi.org/10.1007/s10545-014-9737-0