Fabry family connection: 10 facts about Fabry disease, a rare disorder that runs in families

April is Fabry Awareness Month, a chance to raise awareness about this rare genetic form of kidney disease. Since Fabry disease is a genetic disorder, it means that the disease runs in families. 

To help you and your family better understand how it may affect your kidney health, here are 10 facts about Fabry disease:

1. Fabry disease is a rare genetic disorder that means your body does not make enough of an enzyme (which are proteins that speed up the chemical reactions in our bodies) called alpha-galactosidase A (alpha-GAL). Alpha-GAL normally helps break down and remove a fatty substance found in your cells (called globotriaosylceramide or GL-3). Without enough alpha-GAL, the fatty substance builds up in cells throughout the body, which can cause damage to organs like the kidneys, heart and brain. 
2. Fabry disease is an X-linked genetic disorder, which means it is caused by an altered gene on the X chromosome. This is one of the two chromosomes that determines if someone is born biologically male (when you have one X and one Y chromosome) or female (when you have two X chromosomes). The gene that controls the alpha-GAL and is altered in Fabry disease is called the GLA gene.
3. Because it is a genetic disorder, Fabry disease runs in families. When one person in your family is diagnosed with Fabry disease, an average of five other family members may also be affected. It is important for you and your other family members to talk to your doctor about being tested as soon as possible, even if you seem healthy.
4. Doctors can diagnose Fabry disease through a blood or urine (pee) test. A blood test can measure the level of alpha-GAL enzyme. You or your family member may also want to talk to your doctor about genetic testing. For females, genetic testing is required because the enzyme levels in the blood may be normal or near normal.
5. Fabry disease is often mistakenly identified as another disease or not identified at all. This is because Fabry disease symptoms can be mistaken for other well-known conditions or not appear at all until you experience serious health problems such as stroke, heart attack or kidney failure. 
6. Fabry disease can vary in severity and affect people differently, even among family members. If you or someone in your family is diagnosed with Fabry, it is important for other family members to talk to their doctor about being tested as well, even if they seem healthy.
7. While doctors once thought that only males could get Fabry disease, we now know this is not true. Females can get Fabry disease too. In fact, more females have Fabry disease than males, with an estimated 1 in 40,000 males with the disease versus 1 in 20,000 females. 
8. Fabry disease affects men and women differently. Symptoms are more consistent for men who have Fabry disease than for women and they often show up later in life for women than for men. This can make it more difficult to diagnose Fabry disease in women. 
9. Fabry disease may lower life expectancy by approximately 16 years in males and approximately 5-14 years in females if symptoms are not managed. This is why it is so important to find out if you have the disease early, so you can seek treatments and take steps to slow the progression of the disease.
10. Currently, the primary treatment for Fabry disease is enzyme replacement therapy (ERT). With ERT, the alpha-GAL enzyme is injected into the body intravenously, usually every two weeks.

Be sure to explore these AKF resources to learn more about Fabry disease, including possible symptoms and support resources: 

• Fabry disease (website page)
• The Link Between Fabry Disease and Your Kidneys webinar
• Kidney Disease Cause Unknown? | Fabry Disease May Be Possible
• Women, advocate for yourself to face Fabry disease

You can find out more about Fabry disease on the National Fabry Disease Foundation website.