Synchronous multiple myeloma and Gaucher disease

Pseudo-Gaucher cells can be found in multiple hematologic malignancies, hemoglobinopathies, infections, and multiple storage disorders upon bone marrow aspirate and biopsy; however, Gaucher disease (GD) should be ruled out, particularly when the cytoplasmic inclusions cannot be adequately characterized. It is well known that GD may be associated with monoclonal gammopathies; however, although enzyme replacement therapy (ERT) may result in an improvement in polyclonal gammopathies, its effect on the progression of monoclonal gammopathy of undetermined significance to multiple myeloma (MM) remains uncertain. ERT may improve patient's cytopenias and facilitate administration of anti-myeloma therapy in patients with concurrent GD and MM; however, the current paucity of data makes it challenging to determine its effect on response to anti-myeloma therapy or the risk of relapse. Hematologists should be familiar with the clinical presentation and diagnosis of GD and its association with monoclonal gammopathies. Here we present a case of synchronous smoldering MM and GD.