Fabry disease, a rare genetic disorder, is passed from parents to children.* Statistics show that when one person is diagnosed with Fabry disease, an average of five other family members may also be affected. Fabry disease is found in roughly 1 in 40,000 people.

Those with Fabry disease are unable to make adequate levels of functional alpha-galactosidase A (alpha-GAL), which is an enzyme that breaks down globotriaosylceramide (GL-3), a fatty substance found in your cells Over time, GL-3 can build up in certain cells, causing damage to major organs like the kidneys, heart, and brain.

What are the symptoms?

With Fabry disease, symptoms can be physical manifestations or be silent. Symptoms can vary from person to person. Some people have only one symptom, while others have many. Depending on your age, symptoms can range from mild to severe. In some cases, some people don’t even know they have it until they experience a serious related medical issue, such as a stroke, heart attack, or kidney failure.

Symptoms 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 (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

One of the most common symptoms of Fabry disease is pain, tingling, or burning in the hands and feet. Periods of intense, burning pain that usually start in the hands and feet and spread to other parts of the body are referred to as “Fabry crises.” These can last anywhere from a few minutes to a few days. The pain can also worsen if you have a fever.

The pain experienced during “Fabry crises” is usually caused by:

• Changes in weather
• Hot temperatures
• Stress
• Exercise
• Fatigue

How is Fabry disease diagnosed?

Doctors test for Fabry disease with a simple blood or saliva test. Genetic testing for Fabry disease is also available. Early diagnosis is important because GL-3 begins to build up in certain cells early in life. 

The earlier you find out you have Fabry disease, the sooner you can track your symptoms and learn how to manage the condition. People can develop life-threatening damage to major organs, like the kidneys, which can worsen over time and lead to kidney failure.  

A risk factor for kidney disease

The build-up of GL-3 in some cell types can cause damage to different organs in the body, including the kidney. Since the disease is congenital, damage starts before birth and limits the ability for a person’s kidneys to remove waste from the blood.

If you have a family history of kidney disease—or if you have had a kidney transplant and don’t know why your kidneys failed—consider being tested for Fabry disease.

*American Kidney Fund. (n.d.). Fabry Disease. https://www.kidneyfund.org/kidney-disease/other-kidney-conditions/rare-diseases/fabry-disease/