Imaging of Gaucher disease

Abstract

Gaucher disease is the prototypical lysosomal storage disease. It results from the accumulation of undegraded glucosylceramide in the reticuloendothelial system of the bone marrow, spleen and liver due to deficiency of the enzyme glucocerebrosidase. This leads to hematologic, visceral and skeletal maifestions. Build up of glucosylceramide in the liver and spleen results in hepatosplenomegaly. The normal bone marrow is replaced by the accumulating substrate leading to many of the hematologic signs including anemia. The visceral and skeletal manifestations can be visualized with various imaging modalities including radiography, computed tomography, magnetic resonance imaging (MRI) and radionuclide scanning. Prior to the development of enzyme replacement therapy, treatment was only supportive. However, once intravenous enzyme replacement therapy became available in the 1990s it quickly became the standard of care. Enzyme replacement therapy leads to improvement in all manifestations. The visceral and hematologic manifestations respond more quickly usually within a few months or years. The skeletal manifestations take much longer, usually several years, to show improvement. In recent years newer treatment strategies, such as substrate reduction therapy, have been under investigation. Imaging plays a key role in both initial diagnosis and routine monitoring of patient on treatment particularly volumetric MRI of the liver and spleen and MRI of the femora for evaluating bone marrow disease burden.

Keywords: Gaucher disease; Lysosomal storage disease; Enzyme replacement therapy; Genetics; Medical imaging; Magnetic resonance imaging; Bone marrow

Core tip: Gaucher disease is the most common lysosomal storage disease resulting from accumulation of undegraded glucosylceramide in the reticuloendothelial system of the bone marrow, spleen and liver. Although affecting all three organs, the bone manifestations lead to the most debilitation. Visceral and bone marrow infiltration respond to enzyme replacement therapy however, the bone marrow response typically takes much longer.