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. Current estimates report that Fabry disease is found in roughly 1 in 40,000 males and 1 in 20,000 females.
When you have Fabry disease, your body does not make enough functional alpha-galactosidase A (alpha-GAL), which is an enzyme. Alpha-GAL helps break down and remove globotriaosylceramide (GL-3), a fatty substance found in your cells. When you have Fabry disease, your body does not make enough alpha-GAL to break down the GL-3. Over time, GL-3 builds up in certain cells throughout the body, which can cause can damage to organs like the kidneys, heart and brain.
What are the symptoms of Fabry disease?
Talk with your doctor about Fabry disease
If you are experiencing symptoms that resemble Fabry disease or are not sure of the cause of your kidney disease, or have a family member living with Fabry disease, it is important to talk to your doctor and consider getting tested. Download our helpful guide to get the conversation started.
It is difficult to know if you have Fabry disease by looking at symptoms alone. Some symptoms you can see and feel, while some are silent. Also, symptoms can vary from person to person, even within families; some people may have only one symptom while others from the same family may have many. Fabry disease symptoms can range from mild to severe and can be different depending on your age and whether you are male or female. Sometimes, people do not even know they have it until they have serious health problems such as stroke, heart problems, or kidney failure.
Symptoms of Fabry disease can include:
- Kidney problems (protein in the urine, kidney disease)
- Feeling tired or weak
- Not sweating enough
- Skin lesions (spots on the skin)
- Abnormal pattern of lines on your cornea (the outer layer of the eye)
- Frequent fevers
- Being sensitive to hot and cold temperatures
- Stomach problems (pain after eating, diarrhea, constipation, nausea, vomiting, abdominal cramping)
- Heart problems (high blood pressure, irregular heartbeat, heart failure)
- Nervous system problems (vertigo, feeling weak, dizzy, burning pain in the hands or feet, numbness/tingling in the hands or feet, hearing loss, ringing in your ears)
- Depression and anxiety
One of the most common symptoms of Fabry disease is pain, tingling, or burning in the hands and feet. “Fabry crises” are periods of intense, burning pain that usually start in the hands and feet, and spread to other parts of the body. Fabry crises can last anywhere from a few minutes to a few days. The pain can be caused by changes in weather, hot temperatures, stress, exercise and fatigue. Pain may also be worse when you have a fever.
Even if you have never heard of Fabry disease but have any of these symptoms, you could still be at-risk and should consider getting tested.
How does Fabry disease cause kidney disease?
In people with Fabry disease, the buildup of a fatty substance called GL-3 in some cell types can cause damage to different organs in the body, including the kidney. This damage starts to occur before you are born and limits your kidneys' ability to remove waste from your blood. Learn more about Fabry disease and kidney disease.
How can I get tested for Fabry disease?
Doctors test for Fabry disease with a simple blood or saliva test.
Ask your doctor about genetic testing for Fabry disease. Learn more about testing here.
Why is early diagnosis important?
GL-3 begins building up in certain cells very early in life. People can develop life-threatening damage to major organs, like the kidneys, which can get worse over time. This is why some people with Fabry disease have kidney failure. If you have a family history of kidney disease or if you had a kidney transplant, and don’t know why your kidneys failed, consider being tested.
The earlier you find out you have Fabry disease, the sooner you can track your symptoms and learn how to manage the condition. Learn more about managing Fabry disease here.
How does Fabry disease affect families?
When one person is diagnosed with Fabry disease, an average of five other family members may also be affected. If you are diagnosed with Fabry disease or learn it runs in your family, talk to your doctor and consider getting tested. It is important for you and your other family members to be tested as soon as possible, so you can get proper care.
While doctors once thought that only men could get Fabry disease, we now know this is not true. Women can get Fabry disease too. In fact, more women have Fabry disease than men, but their symptoms might be different. Learn more about what causes Fabry disease and how Fabry disease affects men and women differently.
To learn more about Fabry and resources for patients, visit:
The American Kidney Fund and Sanofi Genzyme do not provide medical advice, diagnosis, or treatment. The health information contained herein is provided for general educational purposes only.Your healthcare professional is the best source of information regarding your health. Please consult your healthcare professional if you have any questions about your health or treatment.