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Gaucher Disease and Bone Manifestations

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Abstract

Gaucher disease is a relatively rare metabolic disease caused by the inherited deficiency of the lysosomal enzyme glucocerebrosidase. Gaucher disease affects multiple organs, among which is the skeleton. Bone involvement occurs frequently in Gaucher disease, and is one of its most debilitating features, reducing the quality of life of patients. Bone status is an important consideration for treatment to ameliorate symptoms and reduce the risk of irreversible complications. We have conducted a systematic review of all the various aspects of Gaucher disease, focusing on different skeletal manifestations, pathophysiology of bone alterations, clinical symptoms, and current diagnostic and therapeutic approaches.

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Acknowledgments

The IOF/ESCEO symposium and work were supported by F.I.R.M.O. Fondazione Raffaella Becagli, a no profit organization fully devoted to research in bone and mineral disorders. The skeletal images are courtesy of Dr. Ehud Lebel, Department of Orthopedic Surgery, Shaare Zedek Medical center, Jerusalem, Israel.

Author Contributions

The paper was drafted by GM and MLB was principally responsible for the literature review and analysis of the data. All authors contributed to conception of the work, critically revising the work for intellectual content and approved the final version of the paper. All authors confirm that they are accountable for all aspects of the work and undertake to ensure that questions relating to the accuracy and integrity of the work are investigated and resolved.

Conflict of Interest

AZ: Consultant/advisory role, stoke ownership and remuneration: Protalix Biotherapeutics, Carmiel Israel; Genzyme Sanofi and Shire; Pfizer, Shire, Genzyme Sanofi. JYR: Consulting fees or paid advisory boards: Servier, Novartis, Negma, Lilly; Wyeth, Amgen, Glaxo Smith Kline, Roche, Merckle, Nycomed Takeda, NPS, IBSA Genevrier, Theramex, UCB, Asahi Kasei; Lecture fees when speaking at the invitation of a commercial sponsor: Merck Sharp and Dome, Lilly, Rottapharm, IBSA, Genevrier, Novartis, Servier, Roche, Glaxo Smith Kline, Merckle, Teijn, Teva, Analis, Theramex, Nycomed, NovoNordisk, Ebewee Pharm, Zodiac, Danone, Will Pharma. Grant support from industry: Bristol Myers Squibb, Merck Sharp and Dome, Rottapharm, Teva, Roche, Amgen, Lilly, Novartis, Glaxo Smith Kline, Servier, Pzifer, Theramex, Danone, Organon, Therabel, Boeringer, Chiltern, Galapagos. RR: Merck Sharp and Dohme, Eli Lilly, Amgen, GSK, Servier and Danone. CC: AMGEN, GSK, Alliance for Better Bone Health, MSD, Eli Lilly, Pfizer, Novartis, Servier, Merck, Medtronic and Roche. MLB: Conflict of interest as consultant and grants recipient are from: Amgen, Eli Lilly, MSD, Novartis, Roche and Servier.

Human and Animal Rights and Informed Consent

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. All applicable international, national, and/or institutional guidelines for the care and use of animals were followed.

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Authors and Affiliations

  1. Head, Bone Metabolic Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Viale Pieraccini 6, 50139, Florence, Italy

    Gemma Marcucci & Maria Luisa Brandi

  2. Gaucher Clinic, Shaare Zedek Medical Center, Hadassah School of Medicine, The Hebrew University, Jerusalem, Israel

    Ari Zimran

  3. Regional Coordination Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy

    Bruno Bembi

  4. Centre for Metabolic Bone Diseases, University of Sheffield Medical School, University of Sheffield, Sheffield, UK

    John Kanis

  5. Department of Public Health and Health Economics, University of Liege, Liege, Belgium

    Jean-Yves Reginster

  6. Service of Bone Diseases, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland

    Renè Rizzoli

  7. MRC Lifecourse Epidemiology Unit, University of Southampton, Southampton, UK

    Cyrus Cooper

  8. NIHR Musculoskeletal Biomedical Research Unit, University of Oxford, Oxford, UK

    Cyrus Cooper

Authors
  1. Gemma Marcucci
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  2. Ari Zimran
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  3. Bruno Bembi
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  7. Cyrus Cooper
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  8. Maria Luisa Brandi
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Correspondence to Maria Luisa Brandi.

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Marcucci, G., Zimran, A., Bembi, B. et al. Gaucher Disease and Bone Manifestations. Calcif Tissue Int 95, 477–494 (2014). https://doi.org/10.1007/s00223-014-9923-y

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  • DOI: https://doi.org/10.1007/s00223-014-9923-y

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