title: Increased aortic stiffness and blood pressure in non-classic Pompe disease.
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.
authors.affiliation: Department of Neurology, Erasmus University Medical Center, Mailbox 2040, 3000 CA, Rotterdam, The Netherlands.
authors.forename: Stephan C A
authors.initials: SC
authors.lastname: Wens
authors.forename: Esther
authors.initials: E
authors.lastname: Kuperus
authors.forename: Francesco U S
authors.initials: FU
authors.lastname: Mattace-Raso
authors.forename: Michelle E
authors.initials: ME
authors.lastname: Kruijshaar
authors.forename: Esther
authors.initials: E
authors.lastname: Brusse
authors.forename: Kees C A G M
authors.initials: KC
authors.lastname: van Montfort
authors.forename: Marjan Scheltens-
authors.initials: MS
authors.lastname: de Boer
authors.forename: Eric J G
authors.initials: EJ
authors.lastname: Sijbrands
authors.forename: Ans T
authors.initials: AT
authors.lastname: van der Ploeg
authors.forename: Pieter A
authors.initials: PA
authors.lastname: van Doorn
mesh_terms: D000328:Adult; D001794:Blood Pressure; D016022:Case-Control Studies; D003430:Cross-Sectional Studies; D056947:Enzyme Replacement Therapy; D005260:Female; D006003:Glycogen / Q000378:metabolism; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000188:drug therapy / Q000503:physiopathology; D006801:Humans; D006973:Hypertension / Q000209:etiology*; D008297:Male; D008875:Middle Aged; D009131:Muscle, Smooth, Vascular / Q000378:metabolism; D063177:Pulse Wave Analysis; D059289:Vascular Stiffness
chemical_list: D006003:Glycogen