La enfermedad de Fabry

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. In time, GL-3 builds up in certain cells throughout the body, which can cause damage to organs like the kidneys, heart and brain.

What causes Fabry disease?

Fabry disease is an X-linked disease, which means that it is caused by an altered gene on the X chromosome. The gene linked with Fabry disease is called GLA. A female parent has a 50% (1 in 2) chance of passing on the altered GLA gene to her male or female child with each pregnancy.

However, a male with Fabry disease will always pass on the altered GLA gene to his female child, since he only has one X chromosome, and females always get one X chromosome from their male parent and one from their female parent. On the other hand, a male parent with Fabry disease will never pass on the altered GLA gene to any of his male children, since males always get their X chromosome from their female parent.

What are the symptoms of Fabry disease?

Often, Fabry disease is mistakenly identified as another disease or not identified at all. This is because Fabry disease symptoms can be mistaken for other well-known conditions. Also, symptoms of Fabry disease can vary from person to person, even within families. 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. Symptoms may range from mild to severe and can be different depending on your age and whether you are male or female. 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 problems (protein in the urine, decreased kidney function,  kidney disease)
• Feeling tired or weak
• Not sweating enough
• Red-purple skin lesions (spots on the skin), most often seen in the bathing trunk area
• Abnormal pattern of lines on your cornea (the outer layer of the eye) seen by your eye doctor during an eye exam
• Frequent fevers
• Being sensitive to hot and cold temperatures
• Stomach problems (pain after eating, diarrhea, constipation, nausea, vomiting, abdominal cramping)
• Heart problems (low or high blood pressure, irregular heartbeat, heart failure, enlarged left heart)
• Stroke or transient ischemic attach (TIA)
• Nervous system problems (vertigo, feeling weak, dizzy, numb, hearing loss, ringing in your ears)
• Depression and anxiety
• Pain in hands or feet

One of the most common symptoms of Fabry disease is pain, tingling, or burning in the hands and feet typically beginning in childhood. "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.

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 can I get tested for Fabry disease?

Doctors can test for Fabry disease with a 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 in 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 do not 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.

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.

Does Fabry disease affect males and females differently?

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, but their symptoms might be different.

Most males with Fabry disease will have all or most of the symptoms described above. However, symptoms will vary more from one female to another, even among females within the same family. Females who show symptoms may develop signs of disease in their brain, heart or kidney later than males.

Fabry disease may lower life expectancy by approximately 16 years in males and approximately 5-14 years in females if symptoms are not managed.

Females with a family history of Fabry disease should consider visiting the doctor regularly, getting tested for Fabry disease and discussing the right medical care with their physician if they have Fabry.

Should my family members get tested for Fabry disease?

People with Fabry disease can have life-threatening damage to major organs, like the kidneys, that worsens over time. This is why early diagnosis is so important. The earlier you find out you have Fabry disease, the sooner you can start tracking your symptoms and learn how to manage them. There may also be steps you can take to keep your kidneys healthy as possible for as long as possible.

Talk to your family about the genetic link to Fabry disease and why they should consider being tested. There are several labs across the United States that provide testing. Testing only requires a simple blood test or saliva sample.

Learn more about how to build a Medical Family Tree to determine which family members may be at risk for Fabry.

How does Fabry disease cause chronic kidney disease (CKD)?

Fabry disease causes GL-3 to build up in some cell types, causing tissue damage in certain organs, like the heart, brain, and the kidneys. Over time, GL-3 buildup in the kidneys can lead to kidney damage and can get in the way of the kidneys' ability to filter waste from the body. Kidney damage is permanent and cannot be reversed once it starts. When your kidneys completely stop working, you will be diagnosed with end-stage renal disease (ESRD) or kidney failure. If your kidneys fail, you will need to start dialysis or get a kidney transplant in order to live.

Can people with Fabry disease be treated?

If you have Fabry disease, a team of specialists can be helpful to assist in managing your symptoms. Your care team may include:

• Cardiologist (heart doctor)
• Neurologist (nervous system doctor)
• Nephrologist (kidney doctor)
• Gastroenterologist (digestive system doctor)
• Audiologist (ear doctor) or otolaryngologist/ENT (ear, nose and throat doctor)
• Psychologist, psychiatrist or mental health counselor
• Geneticist, genetic counselor 

There are guidelines that have established what symptoms and results should cause a person to start treatment. Find out more about monitoring Fabry symptoms and assembling a care team who can help.

More resources

To learn more about Fabry, visit:

• Discover Fabry, an additional resource which offers support and information to people living with Fabry disease and their caregivers.

The American Kidney Fund and Sanofi 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.

MAT-US-2020681-v4.0--07/2023