Journal of Inherited Metabolic Disease

, Volume 38, Issue 2, pp 323–331 | Cite as

Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey

  • Marion M. G. Brands
  • Deniz Güngör
  • Johanna M. P. van den Hout
  • Francois P. J. Karstens
  • Esmee Oussoren
  • Iris Plug
  • Jaap Jan Boelens
  • Peter M. van Hasselt
  • Carla E. M. Hollak
  • Margot F. Mulder
  • Estela Rubio Gozalbo
  • Jan A. Smeitink
  • G. Peter A. Smit
  • Frits A. Wijburg
  • Hanka Meutgeert
  • Ans T. van der Ploeg
Original Article



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.


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).


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.


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.


Carpal Tunnel Syndrome Intellectual Disability Physical Component Summary Score Physical Component Score Mucopolysaccharidosis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



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.

Compliance with Ethics Guideline

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.

Supplementary material

10545_2014_9737_MOESM1_ESM.docx (161 kb)
ESM 1 (DOCX 161 kb).


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Copyright information

© SSIEM 2014

Authors and Affiliations

  • Marion M. G. Brands
    • 1
  • Deniz Güngör
    • 1
  • Johanna M. P. van den Hout
    • 1
    • 2
  • Francois P. J. Karstens
    • 1
    • 3
  • Esmee Oussoren
    • 1
  • Iris Plug
    • 1
  • Jaap Jan Boelens
    • 4
  • Peter M. van Hasselt
    • 5
  • Carla E. M. Hollak
    • 6
  • Margot F. Mulder
    • 7
  • Estela Rubio Gozalbo
    • 8
  • Jan A. Smeitink
    • 9
  • G. Peter A. Smit
    • 10
  • Frits A. Wijburg
    • 11
  • Hanka Meutgeert
    • 12
  • Ans T. van der Ploeg
    • 1
    • 13
  1. 1.Erasmus MC Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Division of Metabolic Diseases and GeneticsErasmus MC University Medical CenterRotterdamThe Netherlands
  2. 2.Erasmus MC Center for Lysosomal and Metabolic Diseases, Department of Child NeurologyErasmus MC University Medical CenterRotterdamThe Netherlands
  3. 3.Erasmus MC Center for Lysosomal and Metabolic Diseases, Department of Internal MedicineErasmus MC University Medical CenterRotterdamThe Netherlands
  4. 4.Department of Pediatrics, Blood and Marrow Transplantation ProgramUMC Utrecht, Wilhelmina Children’s HospitalUtrechtThe Netherlands
  5. 5.Department of Metabolic DisordersUniversity Medical Center UtrechtUtrechtThe Netherlands
  6. 6.Department of Internal Medicine, Division of Endocrinology and Metabolism and Amsterdam Lysosome Centre ‘Sphinx’University of AmsterdamAmsterdamThe Netherlands
  7. 7.Section of Metabolic Diseases, Department of PaediatricsVU University Medical CentreAmsterdamThe Netherlands
  8. 8.Department of PediatricsMaastricht University Medical CenterMaastrichtThe Netherlands
  9. 9.Department of Mitochondrial and Metabolic DiseasesRadboud University Nijmegen Medical Centre, The Netherlands NijmegenNijmegenThe Netherlands
  10. 10.Section of Metabolic Diseases, Beatrix Children’s HospitalUniversity of Groningen, University Medical Centre of GroningenGroningenThe Netherlands
  11. 11.Department of Pediatrics and Amsterdam Lysosome Centre ‘Sphinx’University of AmsterdamAmsterdamThe Netherlands
  12. 12.‘Volwassenen, Kinderen, Stofwisselingsziekten’, Dutch Patient Organization for Children and Adults with Metabolic DisordersZwolleThe Netherlands
  13. 13.Department of Pediatrics, division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic DiseasesErasmus MC University Medical Center Sophia’s Children’s HospitalRotterdamThe Netherlands

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