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. 2014 May;37(3):391-7.
doi: 10.1007/s10545-013-9667-2. Epub 2014 Jan 10.

Increased aortic stiffness and blood pressure in non-classic Pompe disease

Stephan C A Wens  1 , Esther Kuperus, Francesco U S Mattace-Raso, Michelle E Kruijshaar, Esther Brusse, Kees C A G M van Montfort, Marjan Scheltens- de Boer, Eric J G Sijbrands, Ans T van der Ploeg, Pieter A van Doorn
Affiliations

Increased aortic stiffness and blood pressure in non-classic Pompe disease

Stephan C A Wens et al. J Inherit Metab Dis. 2014 May.

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.

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Figures

Fig. 1
Fig. 1
Mean values of cfPWV in patients and volunteers per age category. The boxplots represent the mean values and 95 % CI of cfPWV per age category after adjustment for age, gender, mean arterial blood pressure, heart rate and diabetes mellitus. The number of patients and volunteers per age group are given in the bars
Fig. 2
Fig. 2
Glycogen accumulation in vascular smooth muscle fibres. Muscle biopsies of adult patients with non-classic Pompe disease stained with periodic acid-Schiff (PAS) to demonstrate glycogen storage in vascular smooth muscle fibres (black arrowheads). Original magnification: 630×
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