Treatment Options

Treatment modalities include various pain reduction therapies, blood transfusions, orthopedic surgery for bone and joint involvement, and possibly splenectomy.^[1] 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 waste material to be processed. Thus, enzyme replacement therapy works by supplementing or replacing the Gaucher patient’s missing or deficient enzyme. With ERT, smaller components of waste can be removed from cells by natural processes. However, ERT does not currently address conditions or symptoms related to the central nervous system of Types 2 and 3 Gaucher disease.

Substrate reduction therapy (SRT)

The goal of SRT is to minimize the amount of production and accumulation of waste material, or substrate, within cells. Thus, substrate reduction therapy (SRT) works by reducing the amount of waste that a cell makes. This means that even though patients are deficient in an enzyme that breaks down waste, with SRT, the enzyme they do have is better able to prevent waste from accumulating inside cells. SRT is for Type 1 Gaucher patients for whom ERT is not an option.

References

1. NIH Technology Assessment Panel on Gaucher Disease. Gaucher disease: current issues in diagnosis and treatment. JAMA. 1996;275:548-553.