Monoclonal gammopathies and their management in Gaucher disease type 1

Abstract

Gaucher disease type 1 (GD1) is a rare autosomal recessive genetic disorder characterized by deficiency of the lysosomal enzyme glucocerebrosidase. Among the various clinical manifestations that have been well described for decades, a more recent finding has been the association of GD1 with increased risk of various malignancies, including multiple myeloma. We present a brief review describing the relationship between GD1 and monoclonal gammopathies, as well as the modern standard in the monitoring and management of these conditions. This review aims to increase awareness of a disease that, while rare, is associated with a common malignancy with robust, novel treatment options.

Keywords

Rare disease / Gaucher / multiple myeloma / monoclonal gammopathy

References

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