There is currently no cure for Gaucher disease, but different therapies are available which can help to treat many of the major symptoms.
With treatment, people with type 1 Gaucher may lead full lives and may be able to carry out many of their normal daily activities. Some people with type 1 Gaucher disease have no clinical symptoms and do not need treatment. For Gaucher patients that do require treatment, the options are:
People with Gaucher disease are deficient in the enzyme glucocerebrosidase, the recommended treatment is enzyme replacement therapy; which has to be infused directly into a vein at regular intervals throughout the individual’s life. As such, enzyme replacement therapy (ERT) is an effective therapy, rather than a cure.
There are three licensed enzyme replacement therapies available for doctors to prescribe to treat type 1 Gaucher disease and the visceral disease of type 3 Gaucher disease:
*Elelyso is not licensed for use by the European Medicines Agency (EMA) and therefore is not available in the European Union.
This treatment reduces the amount of fatty substances made in our cells and therefore helps to reduce their build up and enables the residual enzyme level to get rid of the build-up in the cells. SRT is an oral therapy, with two products licenced:
These products are not suitable for everybody and your specialist doctor will advise if they are right for you.
For patients with Gaucher disease who have low bone density and fractures, the bisphosphonate group of drugs (e.g. oral alendronate or IV zoledranate) are often prescribed to help combat osteoporosis and bone disease.
If you experience bone pain, talk to your doctor about pain management it may be helpful if you keep a pain diary. If it is necessary for you to undergo orthopaedic surgery it is essential that this is planned in conjunction with your specialist centre.
For those patients who have had their spleen removed long term antibiotic therapy and up to date vaccinations are essential.