FAQs in Fabry Disease

FAQs in Fabry Disease

Patients and caregivers of genetic disorders such as Fabry disease often have more questions than answers due to the paucity of easily accessible information. This article answers some frequently asked questions (FAQs) about Fabry disease to provide readers a handy reference.

What is Fabry disease?

Fabry disease is an X-linked genetic disease that is caused by mutations in the GLA gene. The GLA gene generates instructions for an enzyme called alpha-galactosidase A (Alpha-GAL), which is responsible for the breakdown of a type of fat called globotriaosylceramide (Gb3 or GL-3).

Accumulation of Gb3 in the body can cause a wide range of problems, including stroke, kidney disease, and heart attack. (Refer to our “What is Fabry disease?” overview page for more details.)

What is the prevalence of Fabry disease?

Fabry disease is estimated to affect one in 40,000 to 60,000 males. Women are rarely affected.

Are there multiple types of Fabry disease?

Two main types of Fabry disease have been described: type 1 (classic Fabry disease) and type 2 (atypical or late-onset Fabry disease), depending on when the symptoms appear.

How do I know if I have Fabry disease?

The symptoms of Fabry disease can be wide-ranging including chronic pain, dark red spots on the skin, cloudy eyes, hearing loss, kidney damage, risk of heart attacks, decreased ability to sweat, and more. For more information, refer to our “symptoms of Fabry disease” page.

Can Fabry disease affect women?

Because Fabry is an X-linked disease, it mainly affects men because they have only one X-chromosome. In females, the second, healthy X-chromosome can compensate for the mutated gene. That means women can carry the disease and pass it to their children, but rarely show any symptoms. Our “Fabry disease inheritance” page offers more details.

Is Fabry disease contagious?

No. Fabry disease is a genetic disease and cannot be acquired from physical contact with an affected individual.

Do people with Fabry disease have reduced life expectancy?

Fabry disease is known to reduce life expectancy by about 20 years when compared to healthy individuals. The average life expectancy for men with Fabry disease is about 58 years in the U.S. compared to 75 years in the case of healthy men.

What kind of treatments are available for Fabry patients?

There is no known cure for Fabry disease, but many of its symptoms can be managed effectively. Available treatments include enzyme replacement. Symptoms present in organs such as the kidney, heart, and ears can be treated in the manner detailed in our “Fabry disease treatments” page.

Lifestyle and dietary changes also may be needed to further improve quality of life.

Where can I find out more about treatments and research?

Fabry Disease News regularly publishes articles that cover a range of relevant news, information, and treatment options for patients and caregivers of those with Fabry disease, including ongoing research and upcoming treatments in development.

The following organizations also offer information about treatment options and ongoing research:

 

Last updated: Aug. 27, 2019

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Fabry Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.

2 comments

  1. Robin Richardson says:

    The author is incorrect. WOMEN ARE AFFECTED!!! Women can/do have the same symptoms!!! It depends on where the Mutated X chromosome is not activated.The healthy X-chromosome DOES NOT compensate for the mutated gene.
    Please stop spreading faulty information.

  2. Grace Camilleri says:

    Hi i am Grace Camilleri from Malta.
    Me and my son have Fabry disease.
    I wish that my son will receive the treatment.
    But in Malta we dont have.
    Thanks .

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