Gaucher disease treatment

ByDavid Mathews
Gaucher disease treatment

 While the treatment of Gaucher disease was previously only able to relieve the symptoms, an effective therapy for the disease is now available. However, treatment with enzymes must be lifelong. Here’s how to treat Gaucher disease.

How is Gaucher’s disease treated?

Until the mid-1990s, only the symptoms of Gaucher disease were treated, primarily with painkillers and blood transfusions. Surgical interventions were considered for destroyed hip joints or when an enlarged spleen had to be removed.

Thanks to the now-established enzyme replacement therapy, those affected now have a reliable treatment method.

 

Lifetime treatment with enzymes

If therapy is started early, all changes and symptoms usually resolve completely. The genetically engineered enzyme (glucocerebrosidase) is infused into the body 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 supplied enzyme also breaks down again.

For this reason, enzyme replacement therapy must be carried out regularly and for a lifetime.

Other forms of therapy for Gaucher disease

Other therapies, such as gene therapy, are still being researched, in which altered genes are replaced with normal genes. Promising results have already been achieved in studies with mice.

Another treatment option is substrate inhibition,  in which the formation of glucocerebrosides is said to be inhibited. Substrate reduction therapy is suitable for patients with mild to moderate Gaucher disease or intolerant to the more effective enzyme replacement therapy. In contrast to enzyme replacement therapy, the preparation is introduced orally. 

Substrate reduction therapy promotes numerous undesirable side effects since the preparation also inhibits other substrates in addition to glucocerebrosides.

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