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Decreased bone mineral density in patients with neurofibromatosis 1

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Abstract

Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant diseases. Although there is a considerable variability in clinical expression, NF1 is almost fully penetrant in adult patients and may be associated with a variety of skeletal anomalies. Spinal deformities are the most common skeletal manifestation, with an incidence estimated from 10–25% in various studies. Some NF1 patients have a dystrophic form of scoliosis, which is characterized by early age at onset and rapid progression. Complications have been reported during spinal instrumentation of dystrophic curves due to soft, non-resistant vertebral bony tissue, suggesting that an alteration of bone quality may occur in NF1 patients. Recent studies have suggested that decreased bone mineral density (BMD) may occur among patients with NF1. We performed a cross-sectional study on 104 adults with NF1, using quantitative ultrasonometry (QUS) to investigate whether decreased BMD is a general phenomenon in NF1 patients. The data reveal that BMD, as measured by age- and gender- adjusted Z-scores, is significantly lower in NF1 patients than in the normal reference population. The decrease in BMD appears to be even more marked among NF1 patients with scoliosis that requires surgical treatment. The findings indicate that NF1 produces a generalized alteration of bone in addition to the focal osseous dysplasias of the vertebrae, tibia, and sphenoid wing that characterize this condition. The pathological mechanism underlying these bony changes remains to be elucidated.

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Acknowledgments

This work is, in part, supported by the German lay foundation for neurofibromatosis: Von-Recklinghausen Gesellschaft.

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Authors and Affiliations

  1. Am Stötchen 17, Arnsberg, Germany

    Marga Lammert & Kurt Lammert

  2. Berufsgenossenschaftliches Forschungsinstitut für Arbeitsmedizin, Bochum, Germany

    Martin Kappler

  3. Klinkum Nord, Ochsenzoll, Germany

    Victor-Felix Mautner

  4. Institute for Pathology, Universtity of Witten/Herdecke, Klinikum Barmen, Heussnerstrasse 40, 42283, Wuppertal, Germany

    Stephan Störkel & Derek Atkins

  5. Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada

    Jan M. Friedman

Authors
  1. Marga Lammert
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  2. Martin Kappler
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  3. Victor-Felix Mautner
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  4. Kurt Lammert
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  5. Stephan Störkel
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  6. Jan M. Friedman
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  7. Derek Atkins
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Correspondence to Derek Atkins.

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Lammert, M., Kappler, M., Mautner, VF. et al. Decreased bone mineral density in patients with neurofibromatosis 1. Osteoporos Int 16, 1161–1166 (2005). https://doi.org/10.1007/s00198-005-1940-2

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  • DOI: https://doi.org/10.1007/s00198-005-1940-2

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