While treatment for Gaucher disease used to only relieve symptoms, effective therapy for the disease is now available. However, treatment with enzymes must be lifelong. Learn how to treat Gaucher disease here.
How is Gaucher disease treated?
Until the mid-1990s, Gaucher disease was treated only for symptoms, primarily with pain medications and blood transfusions. Surgical interventions were considered for destroyed hip joints or when an enlarged spleen had to be removed.
Thanks to enzyme replacement therapy, which is now well established, a reliable treatment method is now available to those affected.
Lifelong treatment with enzymes
If the therapy is started early, there is usually a complete regression of all changes and symptoms. The genetically engineered enzyme (glucocerebrosidase) is administered to the body as an infusion every 14 days. It ensures that the glucocerebrosides stored in the scavenger cells (macrophages) are broken down. However, like all substances in the body, the enzyme supplied is also broken down again.
For this reason, enzyme replacement therapy must be given regularly and for life.
Other forms of therapy for Gaucher disease
Research is still under way on other therapies, such as gene therapy, in which altered genes are replaced with normal genes. Promising results have already been obtained here in studies with mice.
Another therapeutic option is substrate inhibition, in which the formation of glucocerebrosides is already to be inhibited. Substrate reduction therapy is suitable for patients with mild to moderate Gaucher disease or in cases of intolerance to the more effective enzyme replacement therapy. Unlike enzyme replacement therapy, the drug is introduced orally.
Substrate reduction therapy promotes numerous undesirable side effects because the drug inhibits substrates other than glucocerebrosides.
