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Vertebral fractures in Gaucher disease type I: data from the French “Observatoire” on Gaucher disease (FROG)

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Abstract

Summary

Gaucher disease type 1 (GD1), results in a range of skeletal complications including osteopenia, osteoporosis, and osteonecrosis, but there is little published information regarding vertebral fractures. Findings from this observational study indicated that the prevalence of vertebral fractures in a cohort of adult French GD1 patients is approximately 15%.

Introduction

The aim of the study was to assess the prevalence and characteristics of vertebral fractures in a cohort of adult patients with GD1.

Methods

This study was performed in adult patients with GD1 based on a detailed and complete clinical examination. For all patients for whom vertebral fractures were reported, a specific questionnaire was sent to physicians, and imaging data were collected, when available, for centralized analysis.

Results

Data were collected from a total of 105 adult GD1 patients. Bone complications were reported in 85% of patients, among whom vertebral fractures were diagnosed in 16 (15%); seven women and nine men (mean age, 45 years). We observed five patients with multiple vertebral fractures and one patient in whom the T3 vertebra was fractured. Most of these patients did not report fracture-related back pain.

Conclusions

The prevalence of vertebral fractures in this cohort of adult patients with GD1 was 15%. Greater awareness of the natural history of vertebral fractures in GD1, and rigorous monitoring of bone fragility and spine involvement in affected patients, should allow earlier detection and initiation of treatment tailored toward improving bone status.

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Acknowledgments

We acknowledge the contribution of the following study investigators: Dr. Bauduer; Beauvais: Dr. Themelin; Besançon: Dr. Amsallem; Bois Guillaume: Pr Marie; Bordeaux: Dr. Dumoulin; Bourges: Dr. Steiger, Dr. Mornet; Brest: Dr. Dalbies, Dr. Ianotto; Caen: Dr. Macro; Chatellerault: Dr. Cassan-Faux; Dijon: Pr Solary; Evry: Dr. Denis; Haguenau: Dr. Campos Gazeau; La Rochelle: Dr. Brottier Mancini; La Tronche: Dr. Pegourie; Laval: Dr. Jacomy; Le Kremlin Bicêtre: Dr. Peretti; Libourne: Dr. Ceccaldi; Lille: Dr. Plane; Limoges: Dr. Chaury; Lyon: Dr. Desmurs; Marseille: Pr Harle, Dr. Cohen Valensi; Montpellier: Pr Jorgensen, Dr. Le Quellec, Dr. Vandome; Morlaix: Dr. Robin; Nantes: Dr. Masseau; Nevers: Dr. Djerad; Nice: Dr. Heudier; Paris: Pr Allanore, Dr. Said; Pessac: Dr. Camou; Poitiers: Pr Guilhot Gaudeffroy; Quimper: Dr. Hutin, Dr. Vilque; Reims: Dr. Leone; Rennes: Pr Lamy de la Chapelle; Strasbourg: Dr. Carles, Dr. Benboubker; Tours: Dr. Luca; Vendome: Dr. Amir. Dr. Matthew Reilly of InTouch Medical Ltd. provided editorial assistance on the final draft of this manuscript, sponsored by Actelion Pharmaceuticals.

Conflicts of interest

None.

Author information

Authors and Affiliations

  1. Department of Rheumatology, Hôpital de Hautepierre, 67000, Strasbourg, France

    R.-M. Javier

  2. Médecine Interne, Hôpital Claude Huriez, Lille, France

    E. Hachulla

  3. Hématologie, Hôpital St Vincent de Paul, Lille, France

    C. Rose

  4. Actelion Pharmaceuticals France, Paris, France

    V. Gressin

  5. Médecine Interne, Hôpital Pitié-Salpêtrière, Paris, France

    P. Chérin

  6. Médecine Interne, Hôpital Civil, Strasbourg, France

    E. Noël

  7. Médecine Interne, Hôpital de la Timone, Marseille, France

    C. de Roux-Serratrice

  8. Pédiatrie, Hôpital Jeanne de Flandre, Lille, France

    D. Dobbelaere

  9. Neurologie, Hôpital Pitié-Salpêtrière, Paris, France

    A. Hartmann

  10. Médecine Interne et Maladies Infectieuses, Hôpital Robert Debré, Reims, France

    R. Jaussaud

  11. Orgamétrie, Roubaix, France

    P. Clerson

  12. Médecine Interne, Etablissements Nord Sud-Site Hôpital Sud, Rennes, France

    B. Grosbois

  13. Université Paris Descartes, Hôpital Cochin, Paris, France

    C. Roux

Authors
  1. R.-M. Javier
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  2. E. Hachulla
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  3. C. Rose
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  4. V. Gressin
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  5. P. Chérin
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  6. E. Noël
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  7. C. de Roux-Serratrice
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  8. D. Dobbelaere
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  9. A. Hartmann
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  10. R. Jaussaud
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  11. P. Clerson
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  13. C. Roux
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Corresponding author

Correspondence to R.-M. Javier.

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Javier, RM., Hachulla, E., Rose, C. et al. Vertebral fractures in Gaucher disease type I: data from the French “Observatoire” on Gaucher disease (FROG). Osteoporos Int 22, 1255–1261 (2011). https://doi.org/10.1007/s00198-010-1342-y

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  • DOI: https://doi.org/10.1007/s00198-010-1342-y

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