isitgaucher.sg
Treatment
How is Gaucher disease treated?
There is currently no cure for Gaucher disease, but different therapies are available which may help treat many of the major symptoms.1
The treatments described below have some limitations and are not suitable for everyone; for further information, please contact your doctor.
Enzyme replacement therapy (ERT)2
It is designed to work by providing an external source of glucocerebrosidase enzyme (GBA) which is lacking or deficient in the cells.
Substrate reduction therapy (SRT)2
It is designed to work by reducing the production of GL-1 in the body, so that GL-1 accumulation within cells is reduced.
Other treatments
Patients with Gaucher disease may also be given medicines that help manage their symptoms (e.g. pain killers).1
These do not treat Gaucher disease itself but may help reduce the impact it has on the body.1
References:
- Pastores GM, Hughes DA. Gaucher Disease. In: Adam MP, et al., editors. GeneReviews® [Internet]. Seattle, Washington: University of Washington, Seattle; 1993–2018. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1269/; Accessed: August 2019.
- FStirnemann, J.; Belmatoug, N.; Camou, F.; Serratrice, C.; Froissart, R.; Caillaud, C.; Levade, T.; Astudillo, L.; Serratrice, J.; Brassier, A.; Rose, C.; Billette de Villemeur, T.; Berger, M.G. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. Int. J. Mol. Sci. 2017, 18, 441. https://doi.org/10.3390/ijms18020441.
