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. Fabry disease is found in roughly 1 in 40,000 people.
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 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 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. For each child, a mother with Fabry disease has a 50% (1 in 2) chance of passing on the altered GLA gene to her son or daughter.
However, a male with Fabry disease will always pass on the altered GLA gene to his daughter, since he only has one X chromosome, and females always get one X chromosome from their father and one from their mother. On the other hand, a father with Fabry disease will never pass on the altered GLA gene to any of his sons, since males always get their X chromosome from their mother.
Should my family members get tested for Fabry disease?
On average, if a person has Fabry disease, five other family members (including siblings, children, parents, aunts, uncles, and cousins) may also be affected by Fabry disease. It is important for other family members to consider being tested for Fabry disease as soon as possible so they can get the right care. A diagnosis may also help family members understand the cause of symptoms that didn't make sense before.
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.
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. Symptoms 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 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, numb, hearing loss, ringing in your ears)
- Depression and anxiety
Younger people with Fabry disease sometimes have different symptoms than adults. Burning and tingling in the hands and feet is often the first symptom that children and teens feel. They are also more likely to be sensitive to hot and cold temperatures, have repeated fevers, stomach problems and skin lesions. Adults with Fabry disease are more likely to develop serious kidney, heart or nervous system problems in addition to the symptoms listed above.
Does Fabry disease affect men and women differently?
Doctors once incorrectly thought that only men could get Fabry disease. We now know this is not true. Women can get Fabry disease — not just men. In fact, more women have Fabry disease than men, but their symptoms might be different.
Most men with Fabry disease will have all or most of 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.
Women 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.
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, it can take a team of specialists to help manage your symptoms. Your care team may include a:
- 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
There are guidelines that have established what conditions and markers should cause a person to start treatment. Find out more about monitoring Fabry symptoms and assembling a care team who can help.
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.
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