Abstract
Increased aortic stiffness and blood pressure in non-classic Pompe disease
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
While it is likely that the increased glycogen storage in smooth muscle fibres results in an increased arterial stiffness, it is possible that glycogen accumulation in the endothelium damages the vascular wall, making it more vulnerable to atherosclerosis; in the presence of other cardiovascular risk factors, this process might increase arterial stiffness
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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