Article

Endothelial function in children and adolescents with mucopolysaccharidosis

Division of Epidemiology and Clinical Research, Department of Pediatrics, University of Minnesota, Medical School, 420 Delaware St. S.E., MMC 715, Minneapolis, MN, 55455, USA, .
Journal of Inherited Metabolic Disease (Impact Factor: 4.14). 01/2012; 36(2). DOI: 10.1007/s10545-011-9438-x
Source: PubMed

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.

0 Followers
 · 
78 Views
  • [Show abstract] [Hide abstract]
    ABSTRACT: Background The use of digital reactive hyperemia as a measure of endothelial function among children and adolescents is becoming increasingly common. However, unexpected observations of low reactive hyperemic index values in younger children in our laboratory led us to conduct a study evaluating the influence of age, sex, height, weight, blood pressure, body mass index (BMI), and finger volume on RHI values. Methods Endothelial function, measured by digital reactive hyperemia (reactive hyperemic index: RHI) was assessed in 113 children and adolescents (mean age 12.4 ± 3.8 years; 64 males), with 102 also assessed for brachial artery flow-mediated dilation (FMD) using ultrasound imaging. Associations with age, sex, height, weight, systolic and diastolic blood pressure (SBP, DBP), BMI, and finger volume were evaluated. Results Using GLM regression, age (β = 0.03, P = 0.014) and SBP (β = 0.015, P = 0.004) were significantly associated with RHI. No measures were associated with FMD. In the subset of individuals with measured finger volume, age (β = 0.025, P = 0.037) was the only measure significantly associated with log RHI. Similarly, no measures were associated with FMD. Conclusion Younger age is associated with lower RHI but not lower FMD among children and adolescents. These findings call into question the validity and usefulness of digital reactive hyperemia as a method to quantify endothelial function among younger children.
    Atherosclerosis 06/2014; 234(2):410–414. DOI:10.1016/j.atherosclerosis.2014.03.031 · 3.97 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal disorder caused by a deficient activity of N-acetylgalactosamine-4-sulfatase (ARSB). Pulmonary hypertension (PH) occurs in MPS VI patients and is a marker of bad prognosis. Malfunction of endothelium, which regulates vascular tonus and stimulates angiogenesis, can contribute to the occurrence of PH in MPS VI.
    06/2015; 3. DOI:10.1016/j.ymgmr.2015.02.003
  • [Show abstract] [Hide abstract]
    ABSTRACT: The mucopolysaccharidoses (MPS) are genetic lysosomal storage diseases. Peripheral bone dysplasia and spinal involvement are the predominant orthopedic damage. The risk of spinal cord compression due to stenosis of the craniocervical junction is well known in these patients, whereas the thoracolumbar kyphosis is often well tolerated over a long period of time. Thus, signs of spinal cord compression at this level occur later and more insidiously. The authors describe three cases of patients with thoracolumbar kyphosis who suffered from postoperative spinal cord compression in the absence of direct surgical trauma. Analysis of these cases and review of the literature helped identify causal factors resulting in spinal cord ischemia. The risk of perioperative spinal cord complications related to a thoracolumbar kyphosis must be discussed with patients with MPS and their families prior to any surgery, including extra-spinal procedures.
    Journal of Inherited Metabolic Disease 07/2014; DOI:10.1007/8904_2014_325 · 4.14 Impact Factor