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Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring

  • Review
  • Published:
Journal of Inherited Metabolic Disease

Summary

Enzyme replacement was introduced as treatment for non-neuronopathic Gaucher disease more than 15 years ago. To ensure the best use of this costly ultra-orphan agent, a systematic disease management approach has been proposed by an international panel; this includes the development, by consensus, of achievable treatment goals. Here we critically review these goals and monitoring guidelines and incorporate emerging experience of the disease in the therapeutic era, as well as contemporary clinical research. This review makes recommendations related specifically to the management of pregnancy; the appropriate use of splenectomy and bisphosphonate treatment; the relevance of biochemical markers to disease monitoring; and the use of semi-quantitative methods for assessing bone marrow infiltration. In addition, we identify key areas for development, including the requirement for a validated index of disease severity; the need to correlate widely used biomarkers with long-term disease outcomes, and the desirability of establishing agreed standards for monitoring of bone disease particularly in infants and children with Gaucher disease.

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Acknowledgements

The Second International Gaucher Disease Management Board is an independent body supported by an educational grant by Genzyme Corporation, Cambridge, MA. This publication was supported by an unrestricted educational grant from Genzyme Corporation, Cambridge, MA. Editorial support was provided by Conscience Creative LLP, Leatherhead, UK. The opinions or views expressed in this paper are those of the authors and do not necessarily reflect the opinions or recommendations of Genzyme Corporation.

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Authors and Affiliations

  1. Department of Medicine, University of Cambridge, Addenbrooke’s NHS Foundation Hospitals Trust, Cambridge, UK

    T. M. Cox

  2. Department of Medical Biochemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

    J. M. F. G. Aerts

  3. Department of Internal Medicine, Hôpital Beaujon, Assistance Publique-Hôpitaux de Paris, Paris, France

    N. Belmatoug

  4. Department of Internal Medicine, Policlinico Foundation IRCCS, University of Milan, Milan, Italy

    M. D. Cappellini

  5. Department of Internal Medicine, St Franziskus Hospital, Cologne, Germany

    S. vom Dahl

  6. Genetic Services of Western Australia, King Edward Memorial Hospital for Women, School of Paediatrics and Child Health, University of WA, Perth, Australia

    J. Goldblatt

  7. Division of Human Genetics, MLC 4006, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA

    G. A. Grabowski

  8. Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

    C. E. M. Hollak

  9. Department of Pediatrics and Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan, ROC

    P. Hwu

  10. Department of Radiology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

    M. Maas

  11. Reference Center in Inborn Errors of Metabolism, Federal University of São Paulo (UNIFESP), São Paulo, Brazil

    A. M. Martins

  12. Yale University School of Medicine, Internal Medicine, New Haven, Connecticut, USA

    P. K. Mistry

  13. Neurogenetics Unit, Departments of Neurology and Pediatrics, NYU School of Medicine, New York, New York, USA

    G. M. Pastores

  14. Department of Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw, Poland

    A. Tylki-Szymanska

  15. Genzyme Corporation, Cambridge, Massachusetts, USA

    J. Yee

  16. University Research Foundation for Lysosomal Storage Diseases and Northwest Oncology Hematology Associates PA, Coral Springs, Florida, USA

    N. Weinreb

  17. Department of Medicine, University of Cambridge, Level 5, Addenbrooke’s Hospital, Cambridge, CB2 2QQ, UK

    T. M. Cox

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Correspondence to T. M. Cox.

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Communicating editor: Bruce Barshop

Competing interests: None (see Acknowledgements)

References to electronic databases: Non-neuronopathic Gaucher disease, type I: OMIM 230800. Acute neuronopathic Gaucher disease, type 2: OMIM 230900. Chronic neuronopathic Gaucher disease, type 3: OMIM 231000. Glucocerebrosidase: EC 3.2.1.45.

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Cox, T.M., Aerts, J.M.F.G., Belmatoug, N. et al. Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring. J Inherit Metab Dis 31, 319–336 (2008). https://doi.org/10.1007/s10545-008-0779-z

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