• Lunawati L Bennett and Devipriya Mohan.
• Union University, Jackson, TN, USA.
• Ann Pharmacother. 2013 Sep 1; 47 (9): 1182-93.

ObjectiveTo review the epidemiology, pathophysiology, and treatments of Gaucher disease (GD), focusing on the role of enzyme replacement therapy (ERT), andsubstrate reduction therapy (SRT).Data SourcesA literature search through PubMed (1984-May 2013) of English language articles was performed with terms: Gaucher's disease, lysosomal storage disease. Secondary and tertiary references were obtained by reviewing related articles.Study Selection And Data ExtractionAll articles in English identified from the data sources, clinical studies using ERT, SRT and articles containing other interesting aspects were included.Data SynthesisGD is the most common inherited LSD, characterized by a deficiency in the activity of the enzyme acid β-glucosidase, which leads to accumulation of glucocerebroside within lysosomes of macrophages, leading to hepatosplenomegaly, bone marrow suppression, and bone lesions. GD is classified into 3 types: type 1 GD (GD1) is chronic and non-neuronopathic, accounting for 95% of GDs, and types 2 and 3 (GD2, GD3) cause nerve cell destruction. Regular monitoring of enzyme chitotriosidase and pulmonary and activation-regulated chemokines are useful to confirm the diagnosis and effectiveness of GD treatment.ConclusionsThere are 4 treatments available for GD1: 3 ERTs and 1 SRT. Miglustat, an SRT, is approved for mild to moderate GD1. ERTs are available for moderate to severe GD1 and can improve quality of life within the first year of treatment. The newest ERT, taliglucerase alfa, is plant-cell derived that can be produced on a large scale at lower cost. Eliglustat tartrate, another SRT, is under phase 3 clinical trials. No drugs have been approved for GD2 or GD3.

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