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Structural and functional changes in peripheral vasculature of Fabry patients

  • Original Article
  • Published:
Journal of Inherited Metabolic Disease

Summary

Objective: Fabry disease is a lysosomal storage disorder due to deficient α-galactosidase A activity, which leads to glycosphingolipid accumulation especially in vascular smooth-muscle and endothelial cells. Little is known about the effects of Fabry disease on peripheral artery function and structure. Therefore, we aimed to further characterize the peripheral vascular structural and functional changes in Fabry disease. Methods and results: We measured structural and functional vascular parameters, including intima-media thickness (IMT) of brachial and carotid arteries and abdominal aorta, carotid and aortic compliance, and brachial artery flow-mediated dilatation (FMD) in 17 Fabry patients and 34 healthy controls matched for age, sex and smoking. Carotid IMT (0.64 ± 0.15 vs 0.57 ± 0.12 mm), brachial IMT (1.02 ± 0.25 vs 0.74 ± 0.18 mm), and aortic IMT (0.31 ± 0.09 vs 0.26 ± 0.04 mm) were significantly increased, and brachial FMD was significantly impaired (6.3 ± 5.0 vs 9.7 ± 3.9%) in Fabry patients compared to healthy controls (p < 0.05 in all comparisons after adjustments for age, LDL-cholesterol, and systolic blood pressure). No differences were observed in arterial compliance between the groups. Conclusions: These data suggest that Fabry disease affects arterial function and structure by disturbing peripheral endothelial function and promoting intima-media thickening.

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Abbreviations

IMT:

intima-media thickness

FMD:

flow-mediated dilatation

Gb3:

globotriaosylceramide

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Authors and Affiliations

  1. Turku PET Centre, University of Turku, Turku, Finland

    Riikka J. Kalliokoski, Kari K. Kalliokoski & Pirjo Nuutila

  2. Department of Medicine, University of Turku, Turku, Finland

    Ilkka Kantola, Jorma S. Viikari & Pirjo Nuutila

  3. Department of Pediatrics, University of Turku, Turku, Finland

    Olli Simell

  4. Department of Clinical Physiology, University of Turku, Turku, Finland

    Olli T. Raitakari

  5. Clinical Genetics Unit, Department of Pediatrics, University of Turku, Turku, Finland

    Maila Penttinen

  6. Department of Clinical Chemistry, Turku University Central Hospital, Turku, Finland

    Aila Leino

  7. Department of Health and Functional Capacity, Population Research Laboratory, National Public Health Institute, Turku, Finland

    Aila Leino

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  1. Riikka J. Kalliokoski
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  2. Kari K. Kalliokoski
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  9. Olli T. Raitakari
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Correspondence to Riikka J. Kalliokoski.

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Communicating editor: Ed Wraith

Competing interests: None declared

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Kalliokoski, R.J., Kalliokoski, K.K., Penttinen, M. et al. Structural and functional changes in peripheral vasculature of Fabry patients. J Inherit Metab Dis 29, 660–666 (2006). https://doi.org/10.1007/s10545-006-0340-x

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  • DOI: https://doi.org/10.1007/s10545-006-0340-x

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