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What is Fabry Disease?

Fabry disease is a rare disorder that over time can lead to life-threatening problems such as kidney failure, heart attack, and stroke. It is genetic, passed down from parents to children.

With Fabry disease, the body has trouble producing an important enzyme (a type of protein) called alpha-galactosidase A, or alpha GAL. This enzyme is needed to break down substances, so they can be removed from cells and passed out of the body or recycled for other uses. Without alpha GAL, a substance known as globotriaosylceramide, or GB3, builds up in the cells, leading to issues with the kidneys, heart, and brain, among other things.

When fat collects in blood vessels and tissue, the risk of heart attack, stroke and kidney failure increases significantly. If the disease gets worse and causes kidney failure, blood dialysis or a kidney transplant is needed.

There is no cure for Fabry disease. But there are treatments and medications that can help people with Fabry disease live a longer, healthier life while managing the disease.

Fabry disease is a progressive disease. Symptoms, and the risk of serious complications, worsen with age. People with Fabry disease have a higher risk of life-threatening problems that can shorten life expectancy.

Types of Fabry Disease

  • Classic type: Symptoms of classic Fabry disease appear during childhood or the teenage years. One hallmark disease symptom — a painful burning sensation in the hands and feet — may be noticeable as early as age 2. Symptoms get progressively worse over time.
  • Late-onset/atypical type: People with late-onset Fabry disease don’t have symptoms until they’re in their 30s or older. The first indication of a problem may be kidney failure or heart disease.

Fabry disease is a serious genetic disorder that can lead to life-threatening heart and kidney problems. It’s a progressive disease that worsens over time. Symptoms may develop during childhood (classic type) or middle adulthood (atypical type). Males tend to have more severe symptoms. Some females have mild symptoms and don’t know they have the disease. Late-onset or atypical Fabry disease is more common. Females often don’t have symptoms or have mild, easy-to-dismiss symptoms, so the condition frequently goes undiagnosed in women.

Diagnosing Fabry Disease

Symptoms of Fabry Disease vary depending on the type. Some symptoms are mild and might not appear until later in life. Males tend to have more severe symptoms than females. Fabry disease symptoms include:

  • Dizziness
  • Heat or cold intolerance
  • Numbness, tingling, burning or pain in the hands or feet
  • High levels of protein in the urine
  • Extreme pain during physical activity
  • Abnormal opacity of the eye (cornea), which does not change someone’s vision
  • Flu-like symptoms, including fatigue, fever and body aches
  • Sweating less or not at all
  • Swelling (edema) in the legs, ankles or feet
  • Gastrointestinal problems, such as constipation, abdominal pain and diarrhea
  • Hearing loss or ringing in the ears
  • Raised red or purplish skin lesions on your chest, back and in the genital area

Our team at UofL Health are experts in rare diseases that impact the heart. To confirm the diagnosis, your doctor may order tests including:

  • Enzyme assay: This test measures alpha-GAL enzymes in the blood. Measurements of 1% or lower indicate disease. This test is most reliable for males and should not be used in females.
  • Genetic: Because females with Fabry disease can have normal levels of alpha-GAL enzymes, providers use genetic testing (DNA sequencing) to identify the GLA gene mutation.
  • Newborn screenings: Some states test newborns for Fabry disease and other lysosomal storage disorders. The enzyme test is included as part of routine newborn screenings.

Management and Treatment

How is Fabry disease managed or treated?

There isn’t a cure for Fabry disease. Medications for pain and stomach problems can ease symptoms. There are two treatments that may slow down the accumulation of the fat with the goal to prevent life-threatening complications including:

  • Heart problems including arrhythmia, heart attacks, enlarged heart and heart failure
  • Kidney failure
  • Nerve damage
  • Strokes including transient ischemic attacks

If you have Fabry disease, talk to your health care provider about ways to lower stroke risk and protect your heart and kidneys. Newer therapies, including enzyme replacement and oral chaperone treatment, can help you manage the disease and reduce the odds of serious complications.

You should call your healthcare provider if you have Fabry disease and experience:

  • Chest pain, irregular heartbeat, shortness of breath or signs of heart attack
  • Excessive swelling or fluid retention.
  • Extreme dizziness, vision problems or signs of stroke.
  • Hearing loss.
  • Severe abdominal pain or diarrhea.

Research and Clinical Trials for Fabry

Our Fabry disease clinic was created to provide state-of-the-art care for this rare condition as we continue to learn more about it. The clinic takes a holistic, multidisciplinary approach to patient care, treating the whole person and using all available therapies. We actively participate in clinical research trials focused on Fabry disease. We encourage you to speak to your physician about research and clinical trial options.

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