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01-01-2010 | Original Article

High bone turnover and accumulation of osteoid in patients with neurofibromatosis 1

Authors: S. Seitz, C. Schnabel, B. Busse, H. U. Schmidt, F. T. Beil, R. E. Friedrich, T. Schinke, V. F. Mautner, M. Amling

Published in: Osteoporosis International | Issue 1/2010

Abstract

Summary

Although it is known that neurofibromatosis 1 (NF1) patients suffer from vitamin D deficiency and display decreased bone mineral density (BMD), a systematic clinical and histomorphometrical analysis is absent. Our data demonstrate that NF1 patients display high bone turnover and accumulation of osteoid and that supplementation of vitamin D has a beneficial effect on their BMD.

Introduction

Neurofibromatosis 1 results in a wide range of clinical manifestations, including decreased BMD. Although it has been reported that NF1 patients have decreased vitamin D serum levels, the manifestation of the disease at the bone tissue level has rarely been analyzed.

Methods

Thus, we performed a clinical evaluation of 14 NF1 patients in comparison to age- and sex-matched control individuals. The analysis included dual X-ray absorptiometry osteodensitometry, laboratory parameters, histomorphometric and quantitative backscattered electron imaging (qBEI) analyses of undecalcified bone biopsies.

Results

NF1 patients display significantly lower 25-(OH)-cholecalciferol serum levels and decreased BMD compared to control individuals. Histomorphometric analysis did not only reveal a reduced trabecular bone volume in biopsies from NF1 patients, but also a significantly increased osteoid volume and increased numbers of osteoblasts and osteoclasts. Moreover, qBEI analysis revealed a significant decrease of the calcium content in biopsies from NF1 patients. To address the question whether a normalization of calcium homeostasis improves BMD in NF1 patients, we treated four patients with cholecalciferol for 1 year, which resulted in a significant increase of BMD.

Conclusion

Taken together, our data provide the first complete histomorphometric analysis from NF1 patients. Moreover, they suggest that low vitamin D levels significantly contribute to the skeletal defects associated with the disease.

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Title: High bone turnover and accumulation of osteoid in patients with neurofibromatosis 1
Authors: S. Seitz
C. Schnabel
B. Busse
H. U. Schmidt
F. T. Beil
R. E. Friedrich
T. Schinke
V. F. Mautner
M. Amling
Publication date: 01-01-2010
Publisher: Springer-Verlag
Published in: Osteoporosis International / Issue 1/2010
Print ISSN: 0937-941X
Electronic ISSN: 1433-2965
DOI: https://doi.org/10.1007/s00198-009-0933-y

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

High bone turnover and accumulation of osteoid in patients with neurofibromatosis 1

Abstract

Summary

Introduction

Methods

Results

Conclusion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Summary

Introduction

Methods

Results

Conclusion

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