Journal of Inherited Metabolic Disease

, Volume 31, Issue 3, pp 319-336

First online:

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

  • T. M. CoxAffiliated withDepartment of Medicine, University of Cambridge, Addenbrooke’s NHS Foundation Hospitals TrustDepartment of Medicine, University of Cambridge Email author 
  • , J. M. F. G. AertsAffiliated withDepartment of Medical Biochemistry, Academic Medical Center, University of Amsterdam
  • , N. BelmatougAffiliated withDepartment of Internal Medicine, Hôpital Beaujon, Assistance Publique-Hôpitaux de Paris
  • , M. D. CappelliniAffiliated withDepartment of Internal Medicine, Policlinico Foundation IRCCS, University of Milan
  • , S. vom DahlAffiliated withDepartment of Internal Medicine, St Franziskus Hospital
  • , J. GoldblattAffiliated withGenetic Services of Western Australia, King Edward Memorial Hospital for Women, School of Paediatrics and Child Health, University of WA
  • , G. A. GrabowskiAffiliated withDivision of Human Genetics, MLC 4006, Cincinnati Children’s Hospital Medical Center
  • , C. E. M. HollakAffiliated withDepartment of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam
  • , P. HwuAffiliated withDepartment of Pediatrics and Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine
    • , M. MaasAffiliated withDepartment of Radiology, Academic Medical Center, University of Amsterdam
    • , A. M. MartinsAffiliated withReference Center in Inborn Errors of Metabolism, Federal University of São Paulo (UNIFESP)
    • , P. K. MistryAffiliated withYale University School of Medicine, Internal Medicine
    • , G. M. PastoresAffiliated withNeurogenetics Unit, Departments of Neurology and Pediatrics, NYU School of Medicine
    • , A. Tylki-SzymanskaAffiliated withDepartment of Metabolic Diseases, The Children’s Memorial Health Institute
    • , J. YeeAffiliated withGenzyme Corporation
    • , N. WeinrebAffiliated withUniversity Research Foundation for Lysosomal Storage Diseases and Northwest Oncology Hematology Associates PA

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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.