Abstract
Gaucher's disease (GD) is an inborn error of metabolism of the lysosomal enzyme beta-glucosidase, which induces the deposition of undegraded glycolipid material in organs rich in mononuclear macrophage system including liver, spleen and bone marrow. Beta-glucosidase is suspected in patients with evidence of liver and/or spleen enlargement, anemia and/or thrombocytopenia not attributable to other causes, or bone crisis especially in children. In scarce cases GD is associated with neurological involvement. The diagnosis confirmation is performed by analysis of beta-glucosidase activity in peripheral blood leukocytes or fibroblasts. It is necessary to identify genetic mutations that cause GD. It is also advisable to identify biomarkers including chitotriosidase activity and plasma CCL-18/PARC concentration. The use of a protocol for assessing the intensity of the deposit is mandatory to establish the indication for treatment, especially in rare diseases. Nowadays there are several options for treatment of GD: enzyme replacement therapy and substrate reduction therapy. Regular assessments are needed to establish the response and the degree of achievement of the therapeutic goals recommended through expert consensus.
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