Journal of Inherited Metabolic Disease

, Volume 31, Issue 3, pp 319–336

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

Authors

    • Department of MedicineUniversity of Cambridge, Addenbrooke’s NHS Foundation Hospitals Trust
    • Department of MedicineUniversity of Cambridge
  • J. M. F. G. Aerts
    • Department of Medical Biochemistry, Academic Medical CenterUniversity of Amsterdam
  • N. Belmatoug
    • Department of Internal Medicine, Hôpital BeaujonAssistance Publique-Hôpitaux de Paris
  • M. D. Cappellini
    • Department of Internal Medicine, Policlinico Foundation IRCCSUniversity of Milan
  • S. vom Dahl
    • Department of Internal MedicineSt Franziskus Hospital
  • J. Goldblatt
    • Genetic Services of Western Australia, King Edward Memorial Hospital for Women, School of Paediatrics and Child HealthUniversity of WA
  • G. A. Grabowski
    • Division of Human Genetics, MLC 4006Cincinnati Children’s Hospital Medical Center
  • C. E. M. Hollak
    • Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical CenterUniversity of Amsterdam
  • P. Hwu
    • Department of Pediatrics and Medical GeneticsNational Taiwan University Hospital and National Taiwan University College of Medicine
  • M. Maas
    • Department of Radiology, Academic Medical CenterUniversity of Amsterdam
  • A. M. Martins
    • Reference Center in Inborn Errors of MetabolismFederal University of São Paulo (UNIFESP)
  • P. K. Mistry
    • Yale University School of Medicine, Internal Medicine
  • G. M. Pastores
    • Neurogenetics Unit, Departments of Neurology and PediatricsNYU School of Medicine
  • A. Tylki-Szymanska
    • Department of Metabolic DiseasesThe Children’s Memorial Health Institute
  • J. Yee
    • Genzyme Corporation
  • N. Weinreb
    • University Research Foundation for Lysosomal Storage Diseases and Northwest Oncology Hematology Associates PA
Review

DOI: 10.1007/s10545-008-0779-z

Cite this article as:
Cox, T.M., Aerts, J.M.F.G., Belmatoug, N. et al. J Inherit Metab Dis (2008) 31: 319. doi:10.1007/s10545-008-0779-z

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.

Copyright information

© Springer Science+Business Media B.V. 2008