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Bone marrow involvement in Gaucher disease at MRI : what long-term evolution can we expect under enzyme replacement therapy?

  • Musculoskeletal
  • Published:
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Abstract

Purpose

To study the long-term evolution of the bone marrow burden (BMB) score at MRI in patients with Gaucher disease (GD) under enzyme replacement therapy (ERT).

Material and methods

Forty patients treated for GD were retrospectively studied in a referral centre. BMB scores were assessed on spine and femur MR examinations performed between January 2003 and June 2014. The long-term evolution of the BMB scores was analyzed using a linear mixed model.

Results

A total of 121 MRI examinations were performed during the study period with a mean follow-up of 7.1 years ± 5.6, an average rate of 3.1 MR examinations ± 1.7 per patient and an interval of 2.3 years ± 1.1 between examinations. Patients had received ERT during 12 years on average ± 6.7. The trend of BMB scores with time decreased significantly by 15 % (P = 0.008) during the total study period and 39 % (P = 0.01) during the first 5 years of treatment. No changes in BMB scores were observed after five years of treatment.

Conclusion

In Gaucher patients, the trend of MRI BMB scores with time decreased significantly under ERT the first 5 years of treatment before a long-term stabilization.

Key points

• Bone marrow infiltration of Gaucher patients responds to enzyme replacement therapy

• MRI BMB score decreases mainly during the first five years of treatment

• MRI BMB score tends to stabilize after five years of treatment

• MR examinations could be limited after five years of treatment

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Acknowledgments

The scientific guarantor of this publication is: David PETROVER. The authors of this manuscript declare relationships with the following companies: David Petrover, Jerome Stirnemann and Nadia Belmatoug have received research funding and consultant honoraria from Shire, and Genzyme in the past. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. The authors state that this work has not received any funding. One of the authors has significant statistical expertise: Jerome STIRNEMANN. Institutional review Board approval was obtained. Written informed consent from patients was waived by the Institutional review Board. No subjects or cohorts of our study have previously been reported. Methodology and design: retrospective, performed at one institution.

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Authors and Affiliations

  1. Department of Musculoskeletal Imaging, Hôpital Lariboisière, AP-HP, 2 rue Ambroise Paré, 75475, Paris Cedex 10, France

    Benjamin Fedida, Sébastien Touraine, Jean-Denis Laredo & David Petrover

  2. Department of Biostatistics and Medical Data Processing, INSERM UMR 738, Université Paris-Diderot Hôpital Bichat, AP-HP, 46 rue Henri Huchard, 75018, Paris, France

    Jerôme Stirnemann

  3. Division of General Internal Medicine, Faculty of Medicine, Geneva University Hospital, Rue Gabrielle-Perret-Gentil 4, 1205, Geneva, Switzerland

    Jerôme Stirnemann

  4. AP-HP Referral Center for Lysosomal Diseases (RCLD), Hôpital Beaujon, AP-HP, 100 Boulevard du Général Leclerc, 92110, Clichy, France

    Nadia Belmatoug & David Petrover

  5. Department of Internal Medicine, Hôpital Beaujon, AP-HP, 100 Boulevard du Général Leclerc, 92110, Clichy, France

    Nadia Belmatoug

Authors
  1. Benjamin Fedida
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  2. Sébastien Touraine
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Correspondence to David Petrover.

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Fedida, B., Touraine, S., Stirnemann, J. et al. Bone marrow involvement in Gaucher disease at MRI : what long-term evolution can we expect under enzyme replacement therapy?. Eur Radiol 25, 2969–2975 (2015). https://doi.org/10.1007/s00330-015-3715-2

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  • DOI: https://doi.org/10.1007/s00330-015-3715-2

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