Abstract
Introduction
Niemann-Pick disease (NPD) due to acid sphingomyelinase deficiency is a lipid storage disease resulting from the accumulation of sphingomyelin, predominantly within cells of the monocyte-macrophage system. In contrast to other lysosomal storage disorders, skeletal involvement in NPD has not been systematically studied.
Methods
Pediatric and adult NPD-B patients underwent medical histories and physical examinations, DEXA scans to measure bone mineral content (BMC), and bone mineral density (BMD) and computed tomography scan or MRI of the abdomen for spleen volume. Z and/or T scores were calculated for the DEXA results. For the pediatric patients adjusted mean BMC (g) and BMD (g/cm2) of the lumbar spine, hip, and femoral neck was compared to control subjects. For determination of the relationship between spleen volume and lumbar spine BMD Z score, linear correlation analyses were performed.
Results
Lumbar spine Z scores for pediatric patients ranged from 0.061 to -4.879. Statistically significant decreases were observed for the adjusted mean BMC and BMD at the lumbar spine, hip, and femoral neck between the pediatric NPD-B cohort and control subjects. Most NPD-B adults were osteopenic or osteoporotic at one or more sites according the WHO classification of BMD. In NPD-B patients, the degree of splenomegaly was inversely correlated with lumbar spine BMD Z scores.
Conclusion
Skeletal involvement is a common and previously unrecognized manifestation of NPD-B. The association between splenomegaly and BMD lends further support to spleen size as an indicator of disease severity.
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Acknowledgments
The authors wish to thank the Center for Pediatric Nutrition Research at the University of Utah for sharing their normative pediatric DEXA data. Dr. McGovern is the recipient of Mid Career Patient-Oriented Research Career Development Award K24 RR021991 from the National Institutes of Health. These studies were supported by grant 5 MO1 RR00071 for the Mount Sinai General Clinical Research Center from the National Center for Research Resources, National Institutes of Health as well as a research grant from Genzyme, a Sanofi Company, Cambridge, MA.
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Communicated by: Olaf Bodamer
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Wasserstein, M., Godbold, J. & McGovern, M.M. Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B. J Inherit Metab Dis 36, 123–127 (2013). https://doi.org/10.1007/s10545-012-9503-0
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DOI: https://doi.org/10.1007/s10545-012-9503-0