A simultaneous diagnosis of multiple myeloma and Gaucher disease

Abstract

Gaucher disease (GD) is a rare autosomal recessive metabolic disorder caused by the deficiency of the enzyme glucocerebrosidase, required for the degradation of glycosphingolipids. This leads to the accumulation of glucosylceramide and glucosylsphingosine in lysosomal macrophages (Gaucher cells). The diagnosis of GD should be made on the deficiency of the glucocerebrosidase activity (GBA) in leukocytes, fibroblasts, and/or dried blood spots, but also be confirmed through molecular analysis of the GBA gene. GD is linked to an increased risk of cancer in general, and hematological malignancies in particular. Due to an excessive accumulation of glucocerebroside in bone marrow, both cytopenia and bone lesions can be seen in GD, which are clinical presentations that may overlap with multiple myeloma (MM). We report here the case of a patient with synchronous GD and MM, with the description of the evolution.