In the past, patient care and therapy for Type 1 Gaucher disease was only aimed at managing or relieving symptoms. Treatments included various pain reduction therapies, blood transfusions, orthopedic surgery for bones and joints, and possible splenectomy (removal of spleen).
Although many of these measures still have a place in the management of Type 1 Gaucher disease, the focus of disease management shifted in the early 1990s with the advent of disease-specific therapy. There are two major approaches to disease-specific therapies for Type 1 Gaucher disease: enzyme replacement therapy and substrate reduction therapy.
These therapeutic approaches are also used in other lysosomal storage diseases and the descriptions below are intended to give you a general overview of these approaches. You should discuss any specific treatment option with your physician.
Enzyme replacement therapy (ERT)
The goal of ERT is to provide the appropriate amount of enzyme to allow excess 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 excess material 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 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 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.
Symptom Management and Ongoing Care
Gaucher patients generally undergo a variety of types of medical care. Often a specialist in genetic diseases will oversee a patient's care to monitor disease progression and lead medical decisions. Because Gaucher disease affects multiple parts of the body, patients frequently see multiple doctors specializing in different areas. Treatment options include various pain reduction therapies, blood transfusions, orthopedic surgery for bones and joints, and, rarely, splenectomy, or removal of the spleen.
It's also important to consider the mental and emotional impact that Gaucher disease can place on patients and their families. Professional counseling can help patients better manage the difficulties of their disease and the lifestyle changes that may be required.