How is Gaucher's disease treated?
Until the mid-1990s, Gaucher's disease treated only the symptoms, especially with pain medications and blood transfusions. Surgical procedures were possible in destroyed hip joints or when an enlarged spleen had to be removed. Thanks to the now established enzyme replacement therapy, a reliable treatment method is available to those affected today.
With early onset of therapy, it usually comes to a complete regression of all changes and complaints. The genetically engineered enzyme (glucocerebrosidase) is infused into the body every 14 days. It ensures that the glucocerebrosides stored in the phagocytes (macrophages) are broken down. Like all substances in the body, however, the supplied enzyme is degraded again.
For this reason, the enzyme replacement therapy must be performed regularly and for a lifetime.
Other forms of therapy in Gaucher disease
Other therapies are currently being researched, such as gene therapy, in which altered genes are replaced by normal genes.
Another treatment option is the substrate inhibition, in which the formation of glucocerebrosides is to be inhibited. Substrate reduction therapy is suitable for patients with mild to moderate Gaucher disease or intolerance to more effective enzyme replacement therapy. In contrast to the enzyme replacement therapy, the preparation is introduced orally.
The substrate reduction therapy favors many undesirable side effects, since the preparation in addition to the glucocerebroside other substrates are inhibited.