Endothelial function in children and adolescents with mucopolysaccharidosis

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11 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)221-225
Number of pages5
JournalJournal of Inherited Metabolic Disease
Volume36
Issue number2
DOIs
StatePublished - Mar 1 2013

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Mucopolysaccharidoses
Enzyme Replacement Therapy
Hematopoietic Stem Cell Transplantation
Mucopolysaccharidosis II
Hyperemia
Coronary Angiography
Blood Vessels
Coronary Vessels

Cite this

Endothelial function in children and adolescents with mucopolysaccharidosis. / Kelly, Aaron S; Metzig, Andrea M.; Steinberger, Julia; Braunlin, Elizabeth A.

In: Journal of Inherited Metabolic Disease, Vol. 36, No. 2, 01.03.2013, p. 221-225.

Research output: Contribution to journalArticle

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