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Cisneros Family, affected by Fabry disease


Fabry disease gets worse over time and can become life-threatening. It is important to understand how Fabry disease may affect your body.

Cisneros Family, affected by Fabry disease

Disease overview

Understanding Fabry disease

Fabry disease is caused by an altered gene. A person who inherits this gene is unable to produce enough of a working enzyme known as alpha-galactosidase A, or alpha-GAL.

Alpha-GAL breaks down a fatty substance called globotriaosylceramide or GL-3. Without enough alpha-GAL, GL-3 is not broken down, but instead builds up in cells throughout the body. GL-3 buildup starts before birth and continues over decades.

Fabry disease is inherited, which means it can be passed on from parents to children. If you or someone in your family is diagnosed with Fabry disease, it is important to talk to a genetic counselor, as there may be other undiagnosed family members with Fabry disease.

For every person who is diagnosed with Fabry disease, an average of 5 additional family members may be affected.

Disease progression

Fabry disease is progressive

Fabry disease gets worse over time. When unmanaged, Fabry disease reduces life expectancy by approximately 15-20 years. It’s important to talk to your doctor because even if you do not feel sick, symptoms could be progressing silently, affecting internal organs such as the kidney or heart.

Early signs and symptoms of Fabry disease may include pain in the hands and feet, fatigue, digestive problems, and an inability to sweat. Over time, GL-3 buildup may cause blood vessels to narrow, which means the kidney, heart, and brain do not get the blood flow they need to function properly.

As a result, people with Fabry disease are at risk for potentially life-threatening problems such as kidney disease, an enlarged heart, heart valve problems, and early stroke.


Monitoring your health

Managing and monitoring Fabry disease is important for maintaining your health. There are some symptoms that you can see and feel, which you should let your doctor know about. Some of these symptoms may include:

  • Pain in the hands, feet, or stomach
  • Inability to sweat
  • Diarrhea
  • Constipation
  • Temperature sensitivities
  • Reddish or purple spots on skin

Other symptoms can progress “silently” even if you don’t feel sick. Medical assessments are needed to monitor these symptoms, especially since they can affect the kidney, heart, and brain.

Here are some common tests used to monitor Fabry disease:

Glomerular filtration rate (GFR)

Measures level of kidney function and determines stage of kidney disease.

Tests for albuminuria and proteinuria

Measures excess protein in the urine. These tests typically indicate whether the kidneys are functioning normally.

Electrocardiogram (EKG/ECG)

Measures electrical activity in the heart.

Echocardiogram (Echo)

Measures thickness and assesses the function and structure of the heart.

Cranial magnetic resonance imaging (MRI)

Measures tissue damage and detects a variety of conditions in the brain.

While Fabrazyme lowers GL-3 in certain cells of the kidney, heart, and skin, it has not been shown to affect specific signs and symptoms of Fabry disease.

Treatment Guidelines

Guiding treatment decisions

Guidelines are a tool for physicians to use when making treatment recommendations for their patients. People who have been diagnosed should receive regular check-ups, even if they are not experiencing symptoms or not currently on treatment. If you have questions about the guidelines, talk to your doctor.

The following guidelines have been developed by an international panel of Fabry experts for the treatment of Fabry disease.


Enzyme replacement therapy (ERT) should be considered in symptomatic males and females at time of diagnosis.

• In published guidelines, Fabry disease experts recommend that ERT should be considered in symptomatic males and females at any age.*

ERT should be considered in asymptomatic males and females:

• Males with classic mutations starting at ages 8 – 10.

• Males with non-classic mutations and asymptomatic females:

     – Should be monitored for the development of symptoms that warrant treatment with ERT: Problems in the kidneys, heart, or brain, as well as pain, gastrointestinal distress, difficulty sweating or exercise intolerance.*

*Fabrazyme has not been studied in patients under the age of 8.

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treatment goals

Understanding Treatment Goals