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Endothelial function in children and adolescents with mucopolysaccharidosis

  • Original Article
  • Published:
Journal of Inherited Metabolic Disease

Abstract

Background

Although coronary artery pathology is a prominent feature of mucopolysaccharidosis (MPS), it may be underestimated by coronary angiography because of its diffuse nature. It is also generally assumed that cardiovascular risk is increased in MPS and reduced following hematopoietic stem cell transplantation (HSCT) or enzyme replacement therapy (ERT), but this has never been formally evaluated. Non-invasive methods of assessing vascular endothelial function may provide a measure of cardiovascular risk in MPS. We evaluated endothelial function, using digital reactive hyperemia, in youth with MPS and in healthy controls.

Methods

Digital reactive hyperemic index (RHI) was measured in 12 children and adolescents (age 10.3 ± 3.9 years old; 11 boys) with treated MPS and nine age- and gender-matched (11.4 ± 4.0; 8 boys) healthy controls. An independent t-test was used to compare RHI between individuals with MPS and controls.

Results

Children and adolescents with MPS (MPS type II: N = 5; type I: N = 4; type VI: N = 3) whether treated by HSCT (N = 4) or ERT (N = 8) had significantly lower RHI compared to controls (MPS 1.22 ± 0.19 vs. controls 1.46 ± 0.32, p < 0.05).

Conclusion

These preliminary findings suggest that children and adolescents with treated MPS have significantly poorer endothelial function when compared to healthy controls. Further investigation into the utility of endothelial function for risk stratification and the long term implications of reduced endothelial function in MPS is warranted.

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Acknowledgements

We appreciate the staff of the National MPS Society for allowing us to conduct our research at the Annual Family Meeting in Orlando, FL (2009). We are grateful to the individuals with MPS who participated in the study and to their families for donating their time.

Funding

Funding for this study was provided the Department of Pediatrics, University of Minnesota Medical School.

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Corresponding author

Correspondence to Aaron S. Kelly.

Additional information

Communicated by: Ed Wraith

Competing interest: None declared.

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Kelly, A.S., Metzig, A.M., Steinberger, J. et al. Endothelial function in children and adolescents with mucopolysaccharidosis. J Inherit Metab Dis 36, 221–225 (2013). https://doi.org/10.1007/s10545-011-9438-x

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  • DOI: https://doi.org/10.1007/s10545-011-9438-x

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