Fabry Disease

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.

On this page

• What Is Fabry Disease?
• What Are the Symptoms of Fabry Disease?
• How Do You Diagnose Fabry Disease?
• How Do You Treat Fabry Disease?

What Is Fabry Disease?

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.

What are the types of Fabry disease? 

There are two types of Fabry disease:

• Classic Fabry disease (type 1) — Symptoms appear during childhood or adolescence and worsen over time. Type 1 is the more severe form of the disease.
• Nonclassic or late-onset Fabry disease (type 2) — Mild, nonspecific symptoms appear in adulthood, usually after age 30. Type 2 Fabry disease symptoms are often mistaken for other conditions, and the disorder may not be diagnosed until severe symptoms — such as kidney failure or heart failure — occur.

What causes 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.

What are Fabry disease risk factors and complications?

Fabry disease risk factors

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.

Complications of Fabry disease

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:

• Heart disease, such as abnormal heart rhythms, coronary artery disease, and heart failure.
• Kidney failure.
• Nerve damage, especially in the hands and feet.
• Stroke.

How can I prevent Fabry disease? 

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.

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What Are the Signs and Symptoms of Fabry Disease?

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:

• Abnormal sensations in your hands and feet, such as pain, tingling, burning, or numbness.
• Cloudiness or streaks in the cornea of your eye that do not affect your ability to see.
• Dizziness (vertigo).
• Flu-like symptoms, such as body aches, extreme fatigue, and fever.
• Gastrointestinal problems, such as diarrhea, constipation, and abdominal pain.
• Hearing problems, such as hearing loss or ear ringing (tinnitus).
• Intolerance to heat or cold.
• Pain during or after exercise.
• Raised, dark red spots on your skin (angiokeratomas).
• Sweating less than normal (hypohidrosis).
• Swelling (edema) in your legs, ankles, or feet.

When should I see a doctor about my Fabry disease symptoms?

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.

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How Do You Diagnose Fabry Disease?

Fabry disease is diagnosed with a blood test.

What to expect during your visit

During your visit, your doctor will:

• Order blood tests.
• Perform a physical exam.
• Review your health history.
• Review your medication history.

Tests to diagnose Fabry disease

Several blood tests can be used to diagnose Fabry disease, including:

• Enzyme assay — This test can diagnose the condition in men only.
• Genetic testing — This test can identify people with the GLA gene mutation, which can help make a diagnosis.
• Newborn screening — Several states routinely test newborns for Fabry disease.

Fabry disease prognosis

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.

What is the life expectancy of someone with Fabry disease?

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.

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How Do You Treat Fabry Disease?

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:

Symptom management

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

Enzyme replacement therapy uses an enzyme made in a lab to replace your missing alpha-gal enzyme.

What happens during enzyme replacement therapy?

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.

How effective is enzyme replacement therapy?

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.

Oral chaperone therapy for Fabry disease

Small molecules called chaperones can help repair malfunctioning alpha-gal enzymes so that they can effectively break down globotriaosylceramide.

What happens during oral chaperone therapy?

You will take a pill as prescribed to help your alpha-gal enzymes work correctly.

How effective is oral chaperone therapy?

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.

Why choose UPMC for Fabry disease care?

When you choose UPMC for Fabry disease care, you will receive:

• Access to world-class expertise — Our world-renowned experts treat the full spectrum of diseases that affect the kidneys using the latest techniques for diagnosis and treatment.
• Multidisciplinary care — A team of experts will work with you to develop a comprehensive treatment plan that addresses all aspects of your condition.
• A full range of treatment options — We offer the latest therapies and participate in clinical trials to advance understanding of disorders that affect the kidneys.

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By UPMC Editorial Staff. Last reviewed on 2025-04-24.