Endothelial function in children and adolescents with mucopolysaccharidosis

• Published in: Journal of inherited metabolic disease Vol. 36; no. 2; pp. 221 - 225
• Main Authors: Kelly, Aaron S., Metzig, Andrea M., Steinberger, Julia, Braunlin, Elizabeth A.
• Format: Journal Article
• Language: English
• Published: Dordrecht Springer Netherlands 01.03.2013; Blackwell Publishing Ltd
• Subjects: Adolescent; Biochemistry; Cardiovascular Diseases - physiopathology; Child; Cross-Sectional Studies; Endothelium, Vascular - physiopathology; Enzyme Replacement Therapy - methods; Female; Hematopoietic Stem Cell Transplantation - methods; Human Genetics; Humans; Hyperemia - physiopathology; Internal Medicine; Male; Medicine; Medicine & Public Health; Metabolic Diseases; Mucopolysaccharidoses - blood; Mucopolysaccharidoses - physiopathology; Mucopolysaccharidoses - therapy; Original Article; Pediatrics; Risk Factors; Endothelial Function; Fabry Disease; Hematopoietic Stem Cell Transplantation; Enzyme Replacement Therapy; Carpal Tunnel Syndrome
• ISSN: 0141-8955; 1573-2665
• DOI: 10.1007/s10545-011-9438-x

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.