Journal of Inherited Metabolic Disease

, Volume 31, Issue 3, pp 319–336 | Cite as

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

  • T. M. Cox
  • J. M. F. G. Aerts
  • N. Belmatoug
  • M. D. Cappellini
  • S. vom Dahl
  • J. Goldblatt
  • G. A. Grabowski
  • C. E. M. Hollak
  • P. Hwu
  • M. Maas
  • A. M. Martins
  • P. K. Mistry
  • G. M. Pastores
  • A. Tylki-Szymanska
  • J. Yee
  • N. Weinreb
Review

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.

Notes

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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Copyright information

© Springer Science+Business Media B.V. 2008

Authors and Affiliations

  • T. M. Cox
    • 1
    • 17
  • J. M. F. G. Aerts
    • 2
  • N. Belmatoug
    • 3
  • M. D. Cappellini
    • 4
  • S. vom Dahl
    • 5
  • J. Goldblatt
    • 6
  • G. A. Grabowski
    • 7
  • C. E. M. Hollak
    • 8
  • P. Hwu
    • 9
  • M. Maas
    • 10
  • A. M. Martins
    • 11
  • P. K. Mistry
    • 12
  • G. M. Pastores
    • 13
  • A. Tylki-Szymanska
    • 14
  • J. Yee
    • 15
  • N. Weinreb
    • 16
  1. 1.Department of MedicineUniversity of Cambridge, Addenbrooke’s NHS Foundation Hospitals TrustCambridgeUK
  2. 2.Department of Medical Biochemistry, Academic Medical CenterUniversity of AmsterdamAmsterdamThe Netherlands
  3. 3.Department of Internal Medicine, Hôpital BeaujonAssistance Publique-Hôpitaux de ParisParisFrance
  4. 4.Department of Internal Medicine, Policlinico Foundation IRCCSUniversity of MilanMilanItaly
  5. 5.Department of Internal MedicineSt Franziskus HospitalCologneGermany
  6. 6.Genetic Services of Western Australia, King Edward Memorial Hospital for Women, School of Paediatrics and Child HealthUniversity of WAPerthAustralia
  7. 7.Division of Human Genetics, MLC 4006Cincinnati Children’s Hospital Medical CenterCincinnatiUSA
  8. 8.Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical CenterUniversity of AmsterdamAmsterdamThe Netherlands
  9. 9.Department of Pediatrics and Medical GeneticsNational Taiwan University Hospital and National Taiwan University College of MedicineTaipeiROC
  10. 10.Department of Radiology, Academic Medical CenterUniversity of AmsterdamAmsterdamThe Netherlands
  11. 11.Reference Center in Inborn Errors of MetabolismFederal University of São Paulo (UNIFESP)São PauloBrazil
  12. 12.Yale University School of Medicine, Internal MedicineNew HavenUSA
  13. 13.Neurogenetics Unit, Departments of Neurology and PediatricsNYU School of MedicineNew YorkUSA
  14. 14.Department of Metabolic DiseasesThe Children’s Memorial Health InstituteWarsawPoland
  15. 15.Genzyme CorporationCambridgeUSA
  16. 16.University Research Foundation for Lysosomal Storage Diseases and Northwest Oncology Hematology Associates PACoral SpringsUSA
  17. 17.Department of MedicineUniversity of CambridgeCambridgeUK

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