Fabry disease gets worse over time and can become life-threatening. It is important to understand how Fabry disease may affect your body.
Understanding Fabry disease
Fabry disease is caused by an altered gene. A person who inherits this gene is unable to produce enough of a working enzyme known as alpha-galactosidase A, or alpha-GAL.
Alpha-GAL breaks down a fatty substance called globotriaosylceramide or GL-3. Without enough alpha-GAL, GL-3 is not broken down, but instead builds up in cells throughout the body. GL-3 buildup starts before birth and continues over decades.
Fabry disease is inherited, which means it can be passed on from parents to children. If you or someone in your family is diagnosed with Fabry disease, it is important to talk to a genetic counselor, as there may be other undiagnosed family members with Fabry disease.
For every person who is diagnosed with Fabry disease, an average of 5 additional family members may be affected.
Monitoring your health
Managing and monitoring Fabry disease is important for maintaining your health. There are some symptoms that you can see and feel, which you should let your doctor know about. Some of these symptoms may include:
Other symptoms can progress “silently” even if you don’t feel sick. Medical assessments are needed to monitor these symptoms, especially since they can affect the kidney, heart, and brain.
Here are some common tests used to monitor Fabry disease:
While Fabrazyme lowers GL-3 in certain cells of the kidney, heart, and skin, it has not been shown to affect specific signs and symptoms of Fabry disease.
Guiding treatment decisions
Guidelines are a tool for physicians to use when making treatment recommendations for their patients. People who have been diagnosed should receive regular check-ups, even if they are not experiencing symptoms or not currently on treatment. If you have questions about the guidelines, talk to your doctor.
The following guidelines have been developed by an international panel of Fabry experts for the treatment of Fabry disease.
• In published guidelines, Fabry disease experts recommend that ERT should be considered in symptomatic males and females at any age.*
• Males with classic mutations starting at ages 8 – 10.
• Males with non-classic mutations and asymptomatic females:
– Should be monitored for the development of symptoms that warrant treatment with ERT: Problems in the kidneys, heart, or brain, as well as pain, gastrointestinal distress, difficulty sweating or exercise intolerance.*
*Fabrazyme has not been studied in patients under the age of 8.
If you or any of your family members experience any of the above symptoms, talk to your doctor about whether you might be a candidate for ERT treatment. Fabrazyme has not been shown to affect symptoms of Fabry disease.
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