Treatment modalities include various pain reduction therapies, blood transfusions, orthopedic surgery for bone and joint involvement, and possibly splenectomy.  Many of these measures still have a place in the management of Gaucher disease. Today, there are two major therapeutic approaches to Type 1 Gaucher disease: enzyme replacement therapy (ERT) and substrate reduction therapy (SRT).
Enzyme replacement therapy (ERT)
The goal of ERT is to provide the appropriate amount of enzyme to allow excess material to be degraded. Thus, enzyme replacement therapy works by supplementing or replacing the Gaucher patient’s missing or deficient enzyme. Because ERT does not cross the blood brain barrier, it does not address conditions or symptoms related to the central nervous system in Types 2 and 3 Gaucher disease.
Substrate reduction therapy (SRT)
The goal of SRT is to minimize the amount of production and accumulation of excess material, or a particular substrate (glucosylceramide or GL1), within cells. Thus, substrate reduction therapy (SRT) works by reducing the amount of GL1 that a cell makes. This means that even though patients with Gaucher disease are deficient in an enzyme that breaks down GL1, with SRT, the enzyme they do have is better able to prevent GL1 from accumulating inside cells.
1. NIH Technology Assessment Panel on Gaucher Disease. Gaucher disease: current issues in diagnosis and treatment. JAMA. 1996;275:548-553.
2. Grabowski G, Petsko G, Kolodny E. Gaucher disease. In: Beaudet A, Sly W, Vogelstein B, Valle D, Kinzler K, Antonarakis S, et al., editors. The Online Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2010. p. Available at www.ommbid.com.
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