Fabry Disease Information
About Fabry Disease
Fabry disease is a rare inherited disorder that affects specific cells and organs in the body. Fabry
disease results from abnormal deposits of a fatty substance, known as globotriaosylceramide
(Gb3). In people with Fabry disease, the gene that would normally tell the body to produce this
enzyme is altered (often called a gene mutation). This alteration means that the enzyme does not
work properly or is completely absent. This in turn leads to a build-up of Gb3 in cells of blood
vessels, kidneys, brain, eyes and other organs.
Managing Fabry Disease
Management of Fabry disease often focuses on managing the symptoms of the disease, like pain,
skin symptoms, gastrointestinal symptoms, cardiovascular problems, and problems with hearing.
In some cases medications or medical procedures or surgery is used. More recently medicines
have been used and researched that focus on the genetic causes of the disease.
Currently there is no cure for Fabry 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 or your 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 Fabry disease, please contact your doctor.
If you are interested in educational information and other information about Fabry Disease as it becomes available, please contact OnePathSM at 1-866-888-0660 or register here.