Abstract
Descriptive, cross-sectional studies investigating bone mineral density (BMD) using dual energy X-ray absorptiometry scan (DEXA) have shown that patients with Fabry disease have significantly reduced bone mineral density at both the lumbar spine and femoral neck. Osteopenia was present in approximately 50% of patients with untreated FD. Here, we further confirm these findings and report for the first time on a case of severe osteoporosis with spontaneous vertebral fractures in a 72-year-old male. With the emerging enzyme replacement therapy and the hope for increased life expectancy, the assessment of BMD should be recommended in patients with FD. Whether BMD and bone metabolism will improve after enzyme replacement therapy warrants further studies. Meanwhile, prophylactic therapy of osteoporotic fractures should be considered in patients with significantly decreased BMD
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Acknowledgments
The author is grateful to Karelle BENISTAN, MD, Robert CARLIER, MD, Caroline LEBRETON, MD and Thi-Chien TRAN, MSc for their help in preparing the manuscript.
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Germain, D.P. (2010). Bone and Muscle Involvement in Fabry Disease. In: Elstein, D., Altarescu, G., Beck, M. (eds) Fabry Disease. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-9033-1_16
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DOI: https://doi.org/10.1007/978-90-481-9033-1_16
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