Galafold.com | Patients | Fabry Disease

Some key facts about Fabry disease

Fabry is a rare disease caused by GLA gene changes (variants).

People with Fabry disease have trouble breaking down and getting rid of certain fatty waste substances (substrates). This happens because of a genetic GLA variant in an enzyme called alpha-galactosidase A. This is sometimes called α-Gal A (alpha-Gal A). The GLA variant causes the body to produce either:

  • An α-Gal A enzyme that doesn’t work correctly, or
  • No enzyme at all

 

 

Fabry disease can affect many parts of the body, including the kidneys, eyes, heart, skin, and others.

Because Fabry disease has a wide range of symptoms, every person with Fabry may be unique. It can cause many types of health issues that may get worse at different rates in different people.

Unfortunately, many patients with Fabry are at risk for serious health issues and organ failure, typically in adulthood. These may shorten lifespan.

The role of genetic GLA variants in Fabry disease

Fabry disease is not caused by one single genetic variant. In fact, there are numerous GLA variants that can cause the disease. GLA variants are written as letters and numbers such as c.155G>A, p.C52Y, which refers to the location of the variant on the GLA enzyme in a patient. These different GLA variants can cause different types of problems in people with Fabry disease.

Know which GLA variant you have

Fabry disease can affect people differently, even among members of the same family or among other people who have the same genetic GLA variant. But knowing which GLA variant you have can help you understand your treatment options. Ask your doctor if you don’t know which GLA variant you have.

Patient

Effects of Fabry disease

Fabry disease can affect many different parts of the body—and may affect everyone differently. Early signs of the disease include:

  • Chronic (long-lasting) pain
  • Tingling
  • Periods of acute pain that last hours to days (called Fabry crises)
  • Reddish-purple spots on the skin
  • Stomach problems

How Fabry disease affects the body

Fabry disease can affect many parts of the body as well as a patient’s emotions. It’s important to remember that everyone may experience Fabry disease differently.

Emotions

Emotions

  • Feelings of distress including depression, guilt, anxiety, and even fear

The clinical trials for Galafold were not designed to determine all of its effects on a person’s behavior or health, and therefore, the safety and efficacy of Galafold have not been established in treating these effects.

Eyes

Eyes

  • A whorled pattern on the front of the eye
  • Fabry cataracts

The clinical trials for Galafold were not designed to determine all of its effects on a person’s behavior or health, and therefore, the safety and efficacy of Galafold have not been established in treating these effects.

Kidneys

Kidneys

  • Protein in the urine
  • Decreased kidney function
  • Kidney failure

The clinical trials for Galafold were not designed to determine all of its effects on a person’s behavior or health, and therefore, the safety and efficacy of Galafold have not been established in treating these effects.

Stomach

Stomach

  • Nausea, vomiting, cramping, and diarrhea
  • Pain/bloating after eating
  • Feeling full after a small amount of food
  • Constipation
  • Difficulty gaining weight

The clinical trials for Galafold were not designed to determine all of its effects on a person’s behavior or health, and therefore, the safety and efficacy of Galafold have not been established in treating these effects.

Heart

Heart

  • Irregular heartbeat (fast or slow)
  • Heart attack or heart failure
  • Enlarged heart

The clinical trials for Galafold were not designed to determine all of its effects on a person’s behavior or health, and therefore, the safety and efficacy of Galafold have not been established in treating these effects.

Skin

Skin

  • Sweating less than or more than normal
  • Small dark red spots called angiokeratomas, mainly between the belly button and knees

The clinical trials for Galafold were not designed to determine all of its effects on a person’s behavior or health, and therefore, the safety and efficacy of Galafold have not been established in treating these effects.

Nervous system

Nervous system

  • Nerve pain
  • Hearing loss, ringing in the ears
  • Intolerance to heat, cold, or exercise
  • Transient ischemic attack (TIA) and stroke
  • Burning in the hands and feet, also called acroparesthesia
  • Vertigo/feeling dizzy

The clinical trials for Galafold were not designed to determine all of its effects on a person’s behavior or health, and therefore, the safety and efficacy of Galafold have not been established in treating these effects.

Fabry disease and families

Fabry disease is caused by a genetic GLA variant. Each of us has information (called DNA) coded into our cells. We inherit this DNA from our parents. This information is gathered into genes, which tell our body how to build the proteins that make up our body and help it work.

If the information in the DNA is wrong (called a variant), the proteins may not work correctly, or may not be made at all. Enzymes, including the enzyme that does not work correctly in Fabry disease, are proteins. The error in the GLA gene causes production of a defective or deficient α-Gal A enzyme, resulting in Fabry disease.

How Fabry disease is inherited

Fabry disease can be passed down by either parent. This is because the GLA variant is found on the X chromosome.

  • Men are XY, meaning they carry 1 X chromosome and 1 Y chromosome
  • Women are XX, meaning they carry 2 X chromosomes

Chromosomes carrying a Fabry disease gene variant are shown below in a red X.

From fathers

A father with Fabry disease passes along his mutation to all of his daughters.

This is because daughters get their father’s only X chromosome with the mutated GLA variant.

A father with Fabry disease never passes the GLA variant to his sons, because sons get a Y chromosome from their fathers.

 

From mothers

A mother who has the GLA variant on one of her 2 X chromosomes has a 50% chance of passing down Fabry disease to each of her children (male or female).

Since men only have 1 X chromosome, if they inherit the variant, they will all develop Fabry disease.

In affected females, the GLA gene may work normally in some parts of the body but not others.

This is believed to be one reason why females have more variable symptoms than males.