Women, advocate for yourself to face Fabry disease

May is Women’s Health Month, a time to remind women and girls about the importance of living a healthy lifestyle and to raise awareness about health issues that affect only women or that affect women differently than they do men. This month, the American Kidney Fund (AKF) is putting a spotlight on Fabry disease. While doctors once thought that only men could get Fabry disease, we now know this is not true. Women can get Fabry disease too.

What is Fabry disease?

Fabry disease is a rare genetic disorder that can be passed down from parent to child. It runs in families, so several members of the same family often have it.

When you have Fabry disease, your body does not make enough of an enzyme called alpha-galactosidase A (alpha-GAL). Alpha-GAL helps break down and remove globotriaosylceramide (GL-3), a fatty substance found in your cells. With Fabry disease, your body does not make enough alpha-GAL to break down the GL-3. Over time, GL-3 buildup can cause damage to organs like your kidneys, heart, skin and brain.

What are the symptoms of Fabry disease?

Fabry disease symptoms can be mistaken for other well-known conditions, meaning people can be misdiagnosed or not diagnosed at all. Symptoms of Fabry disease can also vary from person to person, even within families, and they may range from mild to severe. Some people do not even know they have Fabry disease until they experience serious health problems such as stroke, heart attack or kidney failure.

Symptoms of Fabry disease can include:

  • Kidney, heart, stomach and nervous system problems
  • Feeling tired or weak
  • Not sweating enough
  • Reddish or very dark purple-black spots on the skin
  • Abnormal patterns on your cornea (the outer layer of the eye)—these usually do not impact vision
  • Frequent fevers
  • Being sensitive to hot and cold temperatures
  • Depression and anxiety

Does Fabry disease affect women and men differently?

While each Fabry patient’s experience will differ, most men with Fabry disease will have all or most of the symptoms described above. However, symptoms will vary more from one woman to another. Women who show symptoms often develop brain, heart and kidney abnormalities later compared to men. Fabry disease may lower life expectancy by approximately 20 years in men and approximately 15 years in women if symptoms are not managed.

How can I advocate for myself to face my Fabry disease?

If you are a woman with Fabry disease, the first thing you can do to advocate for yourself is to know that it is especially important for you to prioritize your own health, even if you are not experiencing symptoms. When it comes to Fabry disease, many women are already empowering themselves with information—a powerful tool that can lead to better health outcomes for yourself and help you know how to start discussions with your family members about Fabry disease. In fact, 60% of the people who read information about Fabry disease on the American Kidney Fund's website are women. Prioritizing your health can include learning more about Fabry disease and its symptoms, monitoring your disease progression with regularly scheduled doctors' appointments, sharing new symptom developments with all of the doctors and specialists you regularly see, and ensuring that you follow the treatment schedule determined by your doctor.

If you are a woman with a family history of Fabry disease, you should consider visiting your doctor and getting tested for Fabry disease. If you already know you have Fabry disease or just received a diagnosis of Fabry disease, you can discuss the right treatment option with your doctor to become an empowered participant in your care. Become an advocate for yourself and your health by making sure to schedule your Fabry disease test, schedule doctor’s appointments to monitor any symptoms you have and by keeping a log of symptoms you are experiencing in between appointments.

To learn more about Fabry disease, visit KidneyFund.org/fabry.

AKF’s Fabry disease education content has been made possible by Sanofi Genzyme.

MAT-US-2103615-v1.0-04/2021

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About the Author(s)

Elissa Blattman

Elissa Blattman is the associate director of communications at the American Kidney Fund.

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