Cisneros Family, affected by Fabry disease


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

Cisneros Family, affected by Fabry disease

Disease overview

What is Fabry disease?

Fabry disease is an inherited condition caused by a genetic variation, a change in one of your genes. Because of this change, your body is unable to make enough of an enzyme called alpha-galactosidase A, or alpha-GAL. Enzymes are proteins that break down substances in your body. When enzymes don’t work properly, substances build up and can cause diseases such as Fabry disease.

The role of alpha-GAL.

alpha-GAL breaks down and clears GL-3 buildup

In people who don't have Fabry disease, lysosomes in the cells have alpha-GAL that can break down and clear GL-3.

GL-3 buildup with limited or no alpha-GAL

In people with Fabry disease, GL-3 builds up in lysosomes, so cells don't function as usual.

A lysosome is the digestive system of the cell, where fats and other substances are broken down.

Fabry disease and families.

Fabry disease and families.

Fabry disease affects people of all ages and ethnic backgrounds. It is typically inherited, which means that parents with Fabry disease can pass it down to their children.

Fabry disease runs in families, and when one person is diagnosed, an average of 5 additional relatives may also be affected.

Disease progression

How Fabry disease can affect you.

In people with Fabry disease, GL-3 starts to build up before birth and continues building up throughout life. Although everyone has GL-3, too much of it can cause damage to the body. Fabry disease affects women, men, and children differently. Even within the same family, people with Fabry disease may experience different symptoms including:

How fabry disease can affect you


  • Ministroke or transient ischemic attack (TIA)
  • Marble-like pattern in the eyes (corneal whorling)
  • Hearing loss
  • Tinnitus


  • Chest pain
  • Heart disease

Kidney disease

Digestive problems

Skin and nerves

  • Reddish or purple spots on skin
  • Inability to sweat
  • Pain in hands or feet
  • Temperature sensitivity

Long-term effects of Fabry Disease.

Undiagnosed and unmanaged, Fabry disease can reduce life expectancy by approximately:

Fabry disease reduces life expectancy by approximately 15-20 years.

As a result of GL-3 buildup, people with Fabry disease are at risk for problems that may become life threatening, such as kidney disease, heart problems, and early stroke. Some symptoms of Fabry disease may become worse over time without your knowledge.

It's important to track your symptoms and see your doctor regularly.


Monitoring your health.

Managing and monitoring Fabry disease are 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 consider 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. Your doctor will make specific testing and treatment decisions based upon your individual health considerations.

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" gene variants starting at ages 8 – 10.

• Males with "non-classic" gene variants 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 2.

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.

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treatment goals

Understanding Treatment Goals

FABRAZYME: Treating families with Fabry disease for over 17 years.

Fabrazyme helps patients with Fabry disease by replacing a missing or deficient enzyme. It has been used to treat people with Fabry disease for over 17 years and is backed by the safety and effectiveness shown in clinical studies.