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Gaucher disease: a systematic review and meta-analysis of bone complications and their response to treatment

  • Original Article
  • Published:
Journal of Inherited Metabolic Disease

Abstract

Type 1 Gaucher disease (GD1) is an inherited lysosomal storage disease, which is often managed by enzyme replacement therapy (ERT). The bone response to ERT is usually slower than visceral and hematological responses. There is uncertainty as to whether an increase in the dosage of ERT has a beneficial effect. The aim of our study was to determine whether or not there is sufficient evidence to make a definitive statement about the effects of ERT and substrate reduction therapy (SRT) on bone marrow infiltration and bone mineral density (BMD) in GD1. We conducted a systematic review of all studies examining the effects of ERT and SRT on bony complications of GD1 published before July 2008. The studies were identified by a computerized search with use of Medline, Embase, The Cochrane Database of Systematic Reviews, The Cochrane Central Register of Controlled Trials (CCTR), and bibliographies of papers subsequently retrieved from the search. Three hundred studies were grouped according to whether they deal with the natural history of GD1 or therapeutic issues, and 17 studies were included in the review. The results from our systematic review suggest that further investigations, such as better analysis of the Gaucher Registry, are needed on the effects of ERT and SRT on bony complications of GD1. Studies on the effects of the newly identified velaglucerase and the plant-derived glucocerebrosidase on bony complications of GD1 are also needed.

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Abbreviations

BM:

Bone marrow

BMB:

Bone marrow burden

BMD:

Bone mineral density

CCTR:

Cochrane Central Register of Controlled Trials

ERT:

Enzyme replacement therapy

ESRD:

End-stage renal disease

GD:

Gaucher disease

SRT:

Substrate reduction therapy

MeSH:

Medical subject heading

MRI:

Magnetic resonance imaging

QCSI:

Quantitative chemical shift imaging

WMD:

Weighted mean difference

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Acknowledgments

We thank Genzyme Corporation and Actelion Pharmaceuticals Ltd for providing summer student funding for SP. We also acknowledge the assistance of Dr. Sanaz Piran with regards to statistical methodology.

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Authors and Affiliations

  1. Department of Medicine, Mount Sinai Hospital, University of Toronto, 600 University Ave, Suite 438, Toronto, ON, M5G 1X5, Canada

    Siavash Piran & Dominick Amato

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  1. Siavash Piran
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  2. Dominick Amato
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Correspondence to Dominick Amato.

Additional information

Communicated by: Gregory Pastores

Competing interests: DA has received honoraria from Genzyme Corporation, Actelion Pharmaceuticals Ltd, and Protalix Biotherapeutics. All other authors confirm that they have no competing interests for declaration.

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Piran, S., Amato, D. Gaucher disease: a systematic review and meta-analysis of bone complications and their response to treatment. J Inherit Metab Dis 33, 271–279 (2010). https://doi.org/10.1007/s10545-010-9071-0

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  • DOI: https://doi.org/10.1007/s10545-010-9071-0

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