Fabry disease is an inherited condition, meaning it runs in families. Fabry disease is found in roughly 1 in 40,000 people. Fabry disease can be hard to diagnose. Therefore, it is important to to find a doctor who has a good understanding of the disease. If you think you or a family member may have Fabry disease, talk to a doctor as soon as possible.
What causes Fabry disease?
Cells contain a fatty substance called globotriaosylceramide, or GL-3. GL-3 is normally cleared out of cells with the help of an enzyme called alpha-galactosidase A, or alpha-GAL. The alpha-GAL enzyme breaks down GL-3 into smaller particles that can leave cells, enter the bloodstream, and eventually be reused or eliminated from the body. In patients with Fabry disease, the body does not produce enough functional alpha-GAL to break down the GL-3. Over time, excessive build-up of GL-3 in some cell types can cause damage to tissues throughout the body.
Why is there a shortage of functional alpha-GAL?
Fabry disease is caused by an altered gene, called GLA. GLA is used by the body to manufacture alpha-galactosidase A. For this reason, a person who inherits the altered gene is unable to produce enough alpha-GAL in the amounts needed to do the job it is supposed to do.
Fabry disease is commonly misdiagnosed or undiagnosed because the symptoms can occur in other more well-known conditions. Symptoms can also vary widely, even within the same family. An individual with Fabry disease may experience only one symptom, or all of them, and 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.
Use this Interactive Symptom Finder to view common signs of Fabry disease.
This is not a complete list of all Fabry symptoms. Only a doctor can diagnose Fabry disease. If you have experienced two or more of these symptoms, or if you have a family history of relatives with these symptoms, it may be time to speak to a specialist.
GL-3 accumulation begins before birth, and continues for decades. As a result, Fabry disease symptoms can change over time. Neuropathic pain (burning, tingling pain that mainly affects the hands and feet) is the most common symptom of Fabry disease and is often the first symptom that brings children and adolescents to their doctor. Children may experience recurrent fever, and children and teens may suffer from heat and cold intolerance, gastrointestinal problems, and a skin condition (angiokeratomas). By adulthood, many people with Fabry disease will have serious kidney, heart, or nervous system problems in addition to the symptoms previously described.
Fabry disease is a systemic condition, which means it can affect the whole body. The ongoing build-up of GL-3 causes the blood vessels to become narrowed. As a result, the kidneys, heart, and brain do not get the blood flow they need to function properly. People with Fabry disease can experience life-threatening damage to major organ systems (e.g. stroke at a young age), which can worsen over time. This is why early diagnosis is so important. If you have a family history of Fabry disease, consider being tested even if you are not experiencing symptoms. The earlier Fabry disease is recognized, the sooner monitoring and management can begin.
Fabry disease is an inherited disorder that can be potentially life-threatening. Once one person has been diagnosed with Fabry disease, it is likely that other family members will also be at risk for the disease. That is why it is important for other family members to be tested for Fabry disease as soon as possible, so they can get appropiate care. Learn more>