Fabry disease is a rare, progressive genetic disorder that happens when a fatty substance called globotriaosylceramide builds up in your cells. This condition can cause a range of symptoms that affect different areas of your body, including potentially life-threatening complications like kidney failure, heart failure, and stroke.
UPMC experts provide personalized, multidisciplinary care for people with Fabry disease. Their goal is to manage symptoms, optimize quality of life, and reduce the risk of life-threatening complications.
Fabry disease is a rare, progressive genetic disorder that happens when a fatty substance called globotriaosylceramide builds up in your cells. It can cause a range of symptoms that affect different areas of your body, including potentially life-threatening complications such as kidney failure, heart failure, and stroke.
There are two types of Fabry disease:
Fabry disease is a genetic (inherited) condition caused by a mutation, or change, in your GLA gene. This mutation prevents your body from producing normal amounts of the alpha-gal enzyme, which breaks down a type of fat called globotriaosylceramide.
When globotriaosylceramide builds up in your body, it damages cells in your skin, kidneys, heart, and nervous system.
You are at risk for Fabry disease if you have a biological parent who has been diagnosed with Fabry disease or is a carrier of a mutated GLA gene.
Over time, Fabry disease can cause fatty substances to build up in your body.
This build-up can lead to serious or life-threatening complications, including:
Fabry disease is a genetic condition. If you carry the mutated gene, you may choose to have a preimplantation genetic diagnosis and in vitro fertilization. This procedure tests the embryo before implantation to prevent your child from inheriting the mutated gene.
Symptoms of Fabry disease vary depending on whether you have type 1 or type 2 and can range from mild to severe. They may appear in childhood or later in life and can affect multiple parts of your body.
Common symptoms include:
If you have symptoms of Fabry disease — especially if you have a parent or another relative who has been diagnosed with the condition — you should schedule an appointment with your doctor. Early diagnosis and treatment may help improve your quality of life and reduce your risk of life-threatening complications.
Fabry disease is diagnosed with a blood test.
During your visit, your doctor will:
Several blood tests can be used to diagnose Fabry disease, including:
Fabry disease is a progressive condition that gets worse over time. People with Fabry disease are at a higher risk for life-threatening complications — especially as they age.
Although people with Fabry disease may have a shorter-than-average life expectancy, routine medical care can help them manage their symptoms and reduce their health risks.
Although there is no cure for Fabry disease, treatment can help manage symptoms, slow the progression of the disease, and reduce the risk of complications.
Treatments include:
Your doctor may recommend various treatments to relieve symptoms, restore quality of life, and reduce your risk of developing life-threatening health problems.
Enzyme replacement therapy uses an enzyme made in a lab to replace your missing alpha-gal enzyme.
You will receive an intravenous (IV) infusion of the replacement enzyme, usually every two weeks. Infusions are generally given at an infusion center but may also be given at home.
Replacement enzymes function like your body’s missing alpha-gal enzyme. They help break down globotriaosylceramide and prevent it from building up in your cells, which may prevent cell damage, reduce symptoms, and slow disease progression.
Small molecules called chaperones can help repair malfunctioning alpha-gal enzymes so that they can effectively break down globotriaosylceramide.
You will take a pill as prescribed to help your alpha-gal enzymes work correctly.
Only people with specific GLA gene mutations are eligible for oral chaperone therapy, and the medication won’t work for everyone. Your doctor will let you know if oral chaperone therapy is right for you.
When you choose UPMC for Fabry disease care, you will receive:
By UPMC Editorial Staff. Last reviewed on 2025-04-24.
