Fabry disease is a genetic disorder that runs in families. Fabry disease is progressive, so early diagnosis is important. Too often, Fabry disease symptoms go unrecognized and misdiagnosed. If Fabry disease is diagnosed early, doctors can begin appropriate management of your symptoms. Don’t wait. Get the facts to help you and your family identify and manage Fabry disease.
Fabry disease is found in roughly 1 in 40,000 people
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.
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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.
It was once thought that Fabry disease only affected males. Females were told they are only “carriers,” meaning they carried the gene for the disorder without developing symptoms. We now know this is not true. Both men and women can get Fabry disease, although it may manifest differently depending on gender. Research has shown that females with Fabry disease do, in fact, experience a wide range of significant symptoms. Fabry disease symptoms vary more in women than in men. Most men with Fabry disease will experience the full range of symptoms described here. Many women develop symptoms over time. Women who are symptomatic often develop brain, heart, and kidney abnormalities later in life. Undiagnosed and unmanaged, Fabry disease may reduce life expectancy in both men and women by up to 20 years.
If you suspect you may have Fabry disease, do not ignore the symptoms. You may have been told for years that you were “only a carrier," or you may feel that your disease is not as bad as that of close male relatives, such as your son or father. Due to common misconceptions regarding women and Fabry disease, you may find it difficult to get a diagnosis. It is important for women with a family history of this progressive, potentially life-threatening disease to be monitored regularly and to speak to their doctor about appropriate medical care.
Questions? Our “Guide for Women Living with Fabry Disease” brochure contains information that can help you better understand how Fabry disease impacts women.
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>
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