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Higher fracture prevalence and smaller bone size in patients with hEDS/HSD—a prospective cohort study

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Abstract

Summary

Increased fracture risk in patients with Ehlers-Danlos syndromes has been reported, but the reasons for it are incompletely understood. We aimed to investigate possible determinants of this increased risk and found that hEDS/HSD patients present with a cortical bone size deficit compared with control subjects, possibly related to lower mechanical loading.

Introduction

The Ehlers-Danlos syndromes (EDS) comprise a group of heritable connective tissue disorders caused by defects in the biosynthesis, secretion, and/or organization of fibrillar collagens which might impair bone strength. Our aim was to compare fracture prevalence, volumetric and areal bone mineral density (BMD), bone geometry, muscle size and the muscle-bone interaction, body composition and longitudinal changes therein between patients with hypermobile EDS (hEDS) or hypermobility spectrum disorder (HSD), and healthy control subjects.

Methods

Cross-sectional data comprised 39 female hEDS/HSD patients (age 41 ± 11 years) and 43 age-matched controls. After 8 years, 27 hEDS/HSD and 17 control subjects were re-evaluated. Tibial trabecular and cortical volumetric BMD, bone mineral content (BMC), cortical bone geometry, and lower leg muscle cross-sectional area (CSA) were measured using pQCT. Body composition, areal BMD, and BMC were determined by DXA.

Results

At baseline, patients with hEDS/HSD presented with a smaller cortical bone area, smaller cortical thickness and muscle CSA, and a higher fracture prevalence than control subjects (all p < 0.05). No differences in areal or volumetric BMD were found. Longitudinally, muscle CSA decreased in both groups and muscle density decreased in the hEDS/HSD group (p < 0.001) whereas all bone parameters remained unchanged.

Conclusion

hEDS/HSD patients have a cortical bone size deficit compared with controls, possibly contributing to their increased fracture risk. They presented with decreased muscle CSA but normal bone/muscle area ratio, suggesting that this bone size deficit is likely secondary to decreased mechanical loading. Further, there were no arguments for accelerated bone loss in hEDS/HSD subjects.

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Acknowledgments

We thank the patients and controls subjects for their contribution to the study. Prof. Dr. Fransiska Malfait is a senior clinical research fellow of the Research Foundation Flanders (FWO), Belgium. Finally, we would like to thank Roel Vandecappelle and Jolien Delahaye for their technical assistance.

Funding

This work was supported by a Methusalem Grant from Ghent University to Anne De Paepe (BOFMET2015000401).

Author information

Author notes

  1. B. Lapauw and L. Rombaut shared senior authorship

Authors and Affiliations

  1. Department of Endocrinology Unit for Osteoporosis and Metabolic Bone Diseases, Ghent University Hospital, Corneel Heymanslaan 10, 9000, Ghent, Belgium

    T. Banica, C. Verroken, H.-G. Zmierczak, S. Goemaere & B. Lapauw

  2. Department of Rehabilitation Sciences and Physiotherapy, Ghent University, Ghent, Belgium

    M. Coussens & P. Calders

  3. Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium

    I. De Wandele, F. Malfait & L. Rombaut

Authors
  1. T. Banica
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  2. M. Coussens
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  3. C. Verroken
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  4. P. Calders
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  5. I. De Wandele
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  9. B. Lapauw
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  10. L. Rombaut
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Correspondence to T. Banica.

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All participants gave written informed consent to participate in the study, which was approved by the Ethical Review Board of the Ghent University Hospital and conducted according to the principles of the Declaration of Helsinki.

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Banica, T., Coussens, M., Verroken, C. et al. Higher fracture prevalence and smaller bone size in patients with hEDS/HSD—a prospective cohort study. Osteoporos Int 31, 849–856 (2020). https://doi.org/10.1007/s00198-019-05269-z

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  • DOI: https://doi.org/10.1007/s00198-019-05269-z

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