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Discrepancy between bone density and bone material strength index in three siblings with Camurati-Engelmann disease

Abstract

Summary

Camurati-Engelmann (CE) is a very rare disease affecting one in every million persons worldwide. It is characterized by an enlargement of long bones. We aimed to assess bone characteristics in three siblings with different tools. Even if there was an excess of bone density, quality seemed to be deteriorated.

Introduction

CE disease is a rare monogenic disorder affecting approximately one in every million persons worldwide. It is mainly characterized by a progressive hyperostosis of the periosteum and endosteum of the diaphysis of long bones. Limited data are available about bone characteristics in these patients. In three siblings with CE disease, we aimed to assess bone mineral density (BMD) and trabecular bone score (TBS) by dual-energy X-ray absorptiometry (DXA) and material characteristics at tissue level using bone impact reference point indentation.

Methods

Clinical data were collected and a general laboratory workup was performed. At the lumbar spine and hip, BMD and TBS were measured using DXA imaging. Bone material strength index (BMSi) was measured by bone impact microindentation using an Osteoprobe instrument.

Results

All three cases had densitometric values consistent with high bone mass (sum of Z-score at the lumbar spine and hip > 4). Hip BMD was extremely high in all three siblings at both total hip and femoral neck, while at the lumbar spine, two of them had normal values but the third again had very high BMD. TBS values were in the normal range. In contrast, BMSi measurements were at low or very low levels, compared with normal controls.

Conclusion

Despite strikingly increased BMD and normal microarchitecture, BMSi is affected in patients with CE. Microindentation could be an appropriate tool for assessing bone fragility in these patients. Bone disease in this group of patients requires further study to better understand the underlying regulatory mechanisms and their alterations.

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Acknowledgments

The authors would like to thank the valuable cooperation of the three affected individuals and the Asociación de Afectados por el Síndrome de Camurati Engelmann.

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Correspondence to A. Diez-Perez.

Ethics declarations

Informed consent was obtained from all individual participants included in the study. The Ethics Review Board at our institution approved the study protocol.

Conflicts of interest

A D-P owns shares of Active Life Sci, the manufacturer of Osteoprobe. Sabina Herrera, Raquel Soriano, Xavier Nogués, Robert Güerri-Fernandez, Daniel Grinberg, Natalia García-Giralt, Nuria Martínez-Gil, Santiago Castejón, Alba González-Lizarán, and Susana Balcells declare that they have no conflict of interest.

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Herrera, S., Soriano, R., Nogués, X. et al. Discrepancy between bone density and bone material strength index in three siblings with Camurati-Engelmann disease. Osteoporos Int 28, 3489–3493 (2017). https://doi.org/10.1007/s00198-017-4198-6

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Keywords

  • Camurati-Engelmann
  • Microindentation
  • Progressive diaphyseal dysplasia
  • Rare bone disease