Fabry disease worsens over time and can become life-threatening. It is important to talk to your doctor and understand how Fabry disease may affect your body.
What is Fabry disease?
Fabry disease is an inherited condition caused by a genetic variation, a change in one of your genes. Because of this change, your body is unable to make enough of an enzyme called alpha-galactosidase A, or alpha-GAL. Enzymes are proteins that break down substances in your body. When enzymes don’t work properly, substances build up and can cause diseases such as Fabry disease.
The role of alpha-GAL.
In people who don't have Fabry disease, lysosomes in the cells have alpha-GAL that can break down and clear GL-3.
In people with Fabry disease, GL-3 builds up in lysosomes, so cells don't function as usual.
A lysosome is the digestive system of the cell, where fats and other substances are broken down.
Fabry disease and families.
Fabry disease affects people of all ages and ethnic backgrounds. It is typically inherited, which means that parents with Fabry disease can pass it down to their children.
Fabry disease runs in families, and when one person is diagnosed, an average of 5 additional relatives may also be affected.
If someone in your family has Fabry disease, it's important to discuss testing options with your healthcare providers.
Monitoring your health.
Managing and monitoring Fabry disease are 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 consider 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. Your doctor will make specific testing and treatment decisions based upon your individual health considerations.
• In published guidelines, Fabry disease experts recommend that ERT should be considered in symptomatic males and females at any age.*
• Males with "classic" gene variants starting at ages 8 – 10.
• Males with "non-classic" gene variants and asymptomatic females:
*Fabrazyme has not been studied in patients under the age of 2.
†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.
If you or any of your family members experience any of the above symptoms, talk to your doctor about your treatment goals.
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Fabrazyme helps patients with Fabry disease by replacing a missing or deficient enzyme. It has been used to treat people with Fabry disease for over 17 years and is backed by the safety and effectiveness shown in clinical studies.