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Bone demineralisation in a large cohort of Wilson disease patients

  • Original Article
  • Published:
Journal of Inherited Metabolic Disease

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Abstract

Aims and background

We compared the bone mineral density (BMD) of adult Wilson disease (WD) patients (n = 148), with an age- and gender-matched healthy control population (n = 148). Within the WD cohort, correlations of BMD with WD disease parameters, lab results, type of treatment and known osteoporosis risk factors were analysed.

Methods

Hip and lumbar spine absolute BMD and T-score were measured by dual-energy X-ray absorptiometry. Osteoporosis and osteopenia were defined as a T-score ≤ −2.5, and between −1 and −2.5, respectively.

Results

There were significantly more subjects with abnormal T-scores in the WD population (58.8 %) than in the control population (45.3 %) (χ2 = 6.65, df = 2, p = 0.036), as there were 50.0 % osteopenic and 8.8 % osteoporotic WD patients, vs. 41.2 % and 4.1 %, respectively, in the controls. Especially L2-L4 spine BMD measurements (BMD and T-scores) differed significantly between the WD population and matched controls. L2-L4 spine BMD for WD patients was on average 0.054 g/cm2 (5.1 %) lower than in matched normal controls (0.995 ± 0.156 vs 1.050 ± 0.135; p = 0.002). We found no significant correlation between BMD values and any of the WD disease parameters (e.g. the severity of liver disease), lab results, type of treatment or known osteoporosis risk factors. Duration of D-penicillamine treatment was negatively correlated with femoral BMD value, but in a clinically irrelevant manner, compared to age and gender. Importantly, BMD remained significantly lower in WD patients (n = 89) vs. controls after excluding WD patients with cirrhosis (p = 0.009).

Conclusions

Our study suggests that WD is intrinsically associated with bone demineralisation.

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Abbreviations

ALT:

Alanine transaminase

AP:

Alkaline Phosphatase

AST:

Aspartate transaminase

BMD:

Bone mMineral density

DXA:

Dual X-ray Absorptiometry

GGT:

Gamma glutamyl transpeptidase

INR:

International normalised ratio

MELD:

Model for end-stage liver disease

PTH:

Parathyroid hormone

SD:

Standard deviation

WD:

Wilson disease

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Compliance with ethics guidelines

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Conflict of interest

None.

Human and animal rights and informed consent

All procedures followed were in accordance with the ethical standards of the responsiblecommittee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.

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Authors and Affiliations

  1. Department of Internal Medicine IV, Heidelberg University Hospital, Im Neuenheimer Feld 410, 69120, Heidelberg, Germany

    Karl Heinz Weiss, Daniel Nils Gotthardt, Jan Pfeiffenberger, Jessica Seeßle, Elena Ullrich & Wolfgang Stremmel

  2. Department of Internal medicine, Leuven University Hospitals, Leuven, Belgium

    Mart Van de Moortele

  3. Center for Metabolic Bone Diseases, Leuven University Hospitals, Leuven, Belgium

    Evelien Gielen, Herman Borghs & Steven Boonen

  4. Adriaens Consulting BVBA, Aalter, Belgium

    Els Adriaens

  5. Department of Hepatology, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium

    Wouter Meersseman & David Cassiman

Authors
  1. Karl Heinz Weiss
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  2. Mart Van de Moortele
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  3. Daniel Nils Gotthardt
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  4. Jan Pfeiffenberger
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  5. Jessica Seeßle
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  6. Elena Ullrich
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  7. Evelien Gielen
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  8. Herman Borghs
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  9. Els Adriaens
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  10. Wolfgang Stremmel
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  11. Wouter Meersseman
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  12. Steven Boonen
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  13. David Cassiman
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Corresponding authors

Correspondence to Karl Heinz Weiss or David Cassiman.

Additional information

Communicated by: Robin Lachmann

Prof Steven Boonen unfortunately succumbed during the study

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Weiss, K.H., Van de Moortele, M., Gotthardt, D.N. et al. Bone demineralisation in a large cohort of Wilson disease patients. J Inherit Metab Dis 38, 949–956 (2015). https://doi.org/10.1007/s10545-015-9815-y

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  • DOI: https://doi.org/10.1007/s10545-015-9815-y

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