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In Vivo Bone Architecture in Pompe Disease Using High-Resolution Peripheral Computed Tomography

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Book cover JIMD Reports - Case and Research Reports, 2012/4

Part of the book series: JIMD Reports ((JIMD,volume 7))

Abstract

Pompe disease (lysosomal acid alpha-glucosidase deficiency) in adolescents and adults presents primarily with muscle weakness. Bone weakness is an under-recognized finding in patients with Pompe disease, but there is emerging evidence that loss of muscle function and mobility can lead to loss of mineral content and a higher risk of fracture. In addition to the mineral content, architecture is also important in determining the overall strength of the bone. We present the results of the longest longitudinal duration study to date using a novel application of high-resolution peripheral quantitative computed tomography (HR-pQCT) in four patients with Pompe disease over 4 years of observation during the normal course of their disease management. The subjects varied in treatment status with recombinant human alpha-glucosidase (rhGAA), use of anti-resorptive therapy (such as bisphosphonates), mobility and weight-bearing status, and the use of side-alternating vibration therapy. Our observations were that HR-pQCT can measure trends in mineral density and architecture over a long period of observation and may be an early indicator of the response to interventional therapies. In addition, a combination of decreased loading forces due to decreased mobility likely contributes to the compromise of bone integrity in Pompe disease. These trends can be reversed by applying increased loading forces such as vibration therapy and maintaining weight-bearing and mobility. We conclude that HR-pQCT can serve as a valuable tool to monitor bone health in patients with Pompe disease.

Competing interests: None declared

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Acknowledgments

Images in Fig. 1 are courtesy of Yves Pauchard, University of Calgary. We would like to thank Ion Robu for his engineering and technical expertise in the vibration training setup. This research was supported by funding from the Alberta Children’s Hospital Research Foundation, Alberta Health Innovates Health Solutions (formerly Alberta Heritage Foundation for Medical Research), and through the support of Alberta Health Services.

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Authors and Affiliations

  1. Department of Medical Genetics and Pediatrics, Alberta Children’s Hospital, University of Calgary, 2888 Shaganappi Trail NW, Calgary, AB, T3B 6A8, Canada

    Aneal Khan & Robin Casey

  2. University of Calgary, 2500 University Drive, NW, Calgary, AB, T2N 1 N4, Canada

    Zachary Weinstein

  3. Departments of Medicine, Community Health Sciences and Oncology, University of Calgary, Richmond Road Diagnostic and Treatment Centre, 1820 Richmond Road SW, Calgary, AB, T2T 5 C7, Canada

    David A. Hanley

  4. Alberta Children’s Hospital, 2888 Shaganappi Trail NW, Calgary, AB, T3B 6A8, Canada

    Colleen McNeil

  5. Riddell Movement Assessment Centre, Alberta Children’s Hospital, Department of Pediatrics, University of Calgary, 2888 Shaganappi Trail NW, Calgary, AB, T3B 6A8, Canada

    Barbara Ramage

  6. Schulich School of Engineering, University of Calgary, 2500 University Drive, NW, Calgary, AB, T2N 1 N4, Canada

    Steven Boyd

Authors
  1. Aneal Khan
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  2. Zachary Weinstein
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  3. David A. Hanley
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  4. Robin Casey
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  5. Colleen McNeil
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  6. Barbara Ramage
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  7. Steven Boyd
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Corresponding author

Correspondence to Aneal Khan .

Editor information

Editors and Affiliations

  1. , Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, United Kingdom

    Garry Brown

  2. Medical Center, Department of Pediatrics, Radboud University Nijmegen, Geert Grooteplein 9, Nijmegen, 6500 HB, Netherlands

    Eva Morava

  3. Heidelberg University Hospital, Center for Child and Adolescent Medicine, Im Neuenheimer Feld 430, Heidelberg, 69120, Germany

    Verena Peters

  4. Biological Sciences, Michigan Technological University, 1400 Townsend Drive, Houghton, 49931, USA

    K Michael Gibson

  5. Division of Human Genetics, Medical University Innsbruck, Sch�pfstr. 41, Innsbruck, A-6020, AT

    Johannes Zschocke

Additional information

Communicated by: Ed Wraith

Synopsis

Synopsis

High-resolution peripheral computed tomography can be used to monitor peripheral limb bone health in patients with Pompe disease.

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© 2012 SSIEM and Springer-Verlag Berlin Heidelberg

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Khan, A. et al. (2012). In Vivo Bone Architecture in Pompe Disease Using High-Resolution Peripheral Computed Tomography. In: Brown, G., Morava, E., Peters, V., Gibson, K., Zschocke, J. (eds) JIMD Reports - Case and Research Reports, 2012/4. JIMD Reports, vol 7. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2012_146

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  • DOI: https://doi.org/10.1007/8904_2012_146

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-32441-3

  • Online ISBN: 978-3-642-32442-0

  • eBook Packages: MedicineMedicine (R0)

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