Gaucher Disease Information
About Gaucher Disease
Gaucher disease is a rare inherited disorder that affects specific cells and organs in the body. The areas most affected include the spleen, liver, and bones, as well as the central nervous system. A fatty substance, known as glucocerebroside, begins to accumulate inside the cells in these areas when a specific enzyme, named glucocerebrosidase, is unable to break down glucocerebroside. Glucocerebrosidase is either missing, is produced by the body in only small amounts, or is unable to function properly.
Managing Gaucher Disease
Today, there is a range of therapeutic options available to treat Gaucher disease and its symptoms. Several therapies are intended to target the biochemical process of Gaucher disease. Also, options are available or are being developed for treating symptoms of the disease, such as pain, anemia, and joint problems.
There is no cure for Gaucher disease, but ongoing research continues into new therapeutic approaches. As always, you will want to talk with your doctor or other healthcare professionals to learn more about your treatment options and to decide what is appropriate for you, your child, or family member.
How to get more information
If you are a patient, family member or caregiver looking for more information about Shire HGT’s treatment protocol for Gaucher diesase, please contact your doctor.
If you are interested in educational information and other information about Gaucher Disease as it becomes available, please contact OnePathSM at 1-866-888-0660 or register here.