Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring
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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.
KeywordsBone Mineral Density Enzyme Replacement Therapy Gauche Disease Bone Marrow Infiltration Miglustat
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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