Abstract
Vascular abnormalities and glycogen accumulation in vascular smooth muscle fibres have been described in Pompe disease. Using carotid-femoral pulse wave velocity (cfPWV), the gold standard methodology for determining aortic stiffness, we studied whether aortic stiffness is increased in patients with Pompe disease. Eighty-four adult Pompe patients and 179 age- and gender-matched volunteers participated in this cross-sectional case-controlled study. Intima media thickness and the distensibility of the right common carotid artery were measured using a Duplex scanner. Aortic augmentation index, central pulse pressure, aortic reflexion time and cfPWV were assessed using the SphygmoCor® system. CfPWV was higher in patients than in volunteers (8.8 versus 7.4 m/s, p < 0.001). This difference was still present after adjustment for age, gender, mean arterial blood pressure (MAP), heart rate and diabetes mellitus (p = 0.001), and was shown by subgroup analysis to apply to the 40-59 years age group (p = 0.004) and 60+ years age group (p = 0.01), but not to younger age groups (p = 0.99). Except for a shorter aortic reflexion time (p = 0.02), indirect indicators of arterial stiffness did not differ between patients and volunteers. Relative to volunteers (20 %), more Pompe patients had a history of hypertension (36 %, p = 0.005), and the MAP was higher than in volunteers (100 versus 92 mmHg, p < 0.001). This study shows that patients with non-classic Pompe disease have increased aortic stiffness and blood pressure. Whether this is due to glycogen accumulation requires further investigation. To reduce the potential risk of cardiovascular diseases, we recommend that blood pressure and other common cardiovascular risk factors are monitored regularly.
Highlights
Pompe disease (OMIM 232300: acid maltase deficiency or glycogen storage disease type II) is an inheritable lysosomal storage disorder caused by a deficiency of acid α-glucosidase that leads to glycogen accumulation in various body tissues, predominantly skeletal, cardiac and smooth muscle (Hirschhorn 2001; van der Ploeg and Reuser 2008)
We found that patients with the non-classic form of Pompe disease have increased aortic stiffness and blood pressure
Glycogen accumulation in smooth muscle fibres and in the endothelial layer of arteries has been shown in morphological studies and autopsy reports of patients with Pompe disease (Winkel et al 2003; Thurberg et al 2006; Kobayashi et al 2010)
Summary
Pompe disease (OMIM 232300: acid maltase deficiency or glycogen storage disease type II) is an inheritable lysosomal storage disorder caused by a deficiency of acid α-glucosidase that leads to glycogen accumulation in various body tissues, predominantly skeletal, cardiac and smooth muscle (Hirschhorn 2001; van der Ploeg and Reuser 2008). Patients with the classic-infantile form of the disease develop generalized hypotonia and a hypertrophic cardiomyopathy. Without treatment, these patients die in the first year of life due to cardiorespiratory failure (van den Hout et al 2003). Over the last two decades, several reports have hypothesized that glycogen accumulation in the smooth muscle tissue of arteries leads to vascular abnormalities in non-classic Pompe disease, such as cerebral aneurysms, basilar artery dolichoectasia, carotid dissection and dilated arteriopathy of the thoracic aorta (Braunsdorf 1987; Winkel et al 2003, 2005; Laforet et al 2008; Sacconi et al 2010; El-Gharbawy et al 2011). The emerging gold standard for measuring it directly and non-invasively is tonometry of the carotid-femoral pulse wave velocity (cfPWV) (Van Bortel et al 2012)
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