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Fabry disease

5-minute read

What is Fabry disease?

Fabry disease is a rare genetic condition with many different symptoms that often begin in childhood. Treatments are available to help manage the symptoms

Fabry disease is a genetic disorder that belongs to a group of diseases known as lysosomal storage diseases.

If you have Fabry disease, you don't have enough of an enzyme that’s needed to break down a certain type of fat in your cells. (An enzyme is a chemical, produced within the body, that helps this process to occur.) As a result, the fat builds up in your body, causing a range of symptoms.

Fabry disease is an 'X-linked' condition that is usually inherited meaning that it may be passed down from your mother and/or father via an X chromosome. Very rarely, someone may not inherit Fabry disease but instead they may have a spontaneous genetic mutation that causes them to have the condition. Although both sexes can get Fabry disease, males tend to be affected more severely than females.

What are the symptoms of Fabry disease?

Fabry disease affects people in different ways. Often, the first signs appear in childhood. In other cases, the person doesn't get any symptoms until later in life.

Pain in early childhood is often the first sign of Fabry disease. It may be overlooked and dismissed as 'growing pains'.

In children, some of the other common symptoms are:

  • burning feeling, especially in the hands and feet
  • groups of small, dark red spots on the skin
  • cloudiness of the eye
  • problems with the gut, such as pain, diarrhoea and constipation
  • problems with hearing

In adults, other symptoms that can appear include:

Sometimes, Fabry disease can cause serious complications such as kidney failure, heart attack or stroke. If you are concerned about any symptoms you might have, see your doctor.

How is Fabry disease diagnosed?

Because Fabry disease is rare and can cause so many different symptoms, it can go undiagnosed for many years.

To diagnose Fabry disease, your doctor will need to refer you for a blood test, and sometimes a genetic test, which will look at your DNA. You can get these tests through your GP or a specialist Fabry Clinic.

Because Fabry disease is usually inherited, if you or someone else in your family has been diagnosed, it's important that other family members get tested too. If you or your partner have Fabry disease and are planning to have a baby, it's a good idea to have genetic counselling.

If you are pregnant, you can choose to have a prenatal test to find out if your baby is carrying the disease.

How is Fabry disease treated?

Whether or not you need treatment will depend on how bad your symptoms are and which parts of your body are affected.

The main treatment for Fabry disease is called enzyme replacement therapy. This involves getting an intravenous infusion (a drip) each fortnight to replace the enzyme your body is missing.

A newer type of treatment, called oral chaperone therapy, is also available but is only suitable for people over 16 who have a particular type of Fabry disease.

The cost of both these treatments is covered under the Australian Government's Life Saving Drugs Program for people who meet criteria for approved therapy.

When should I see my doctor?

If you think you might have Fabry disease, it's important to see your doctor and get tested. Then you'll be able to make informed decisions about treatment, and reduce the risk of serious problems developing.

If you've been diagnosed with Fabry disease, you'll need to go to a specialist Fabry Clinic. The clinic will be able to offer you the best care and provide the best advice for managing the condition.

Living with Fabry disease

Not everyone with Fabry disease is seriously affected, but it can cause many problems, both physical and emotional.

Treatments can help manage your symptoms and slow the disease. This means you should still be able to do your normal day-to-day activities and enjoy life.

If you are living with Fabry disease, help is available — contact Fabry Australia for more information and support.

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Last reviewed: May 2021

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