What is Fabry disease?

Fabry disease is a rare genetic condition. It is part of a group of diseases known as lysosomal storage diseases.

If you have Fabry disease, a type of fat called globotriaosylceramide builds up in your cells. This happens because you do not have enough of the enzyme (a type of protein) that your body needs to break down this type of fat. The build-up of fat in your cells damages them and causes a range of symptoms all over your body.

What are the symptoms of Fabry disease?

The first and most common symptom of Fabry disease is usually pain that begins during childhood. Sometimes the pain can be misdiagnosed as growing pains.

Other symptoms you can develop during childhood include:

• burning feeling, especially in the hands and feet
• groups of small dark red or purple spots on your skin
• cloudiness of your eye
• gastrointestinal problems — pain, diarrhoea and constipation
• problems with hearing

During adulthood, your condition can slowly get worse as more and more cells in your body get damaged. Your symptoms can include:

• headaches or dizziness
• tinnitus, or ringing in the ears
• too little or too much sweating
• kidney problems
• heart problems

It is important to know that Fabry disease affects people in different ways. Many people start getting symptoms during childhood, but some people may not get any symptoms until later in life.

What causes Fabry disease?

Fabry disease is a rare genetic condition that is usually passed down from one of your parents via the X chromosome.

Very rarely, it can be caused by a spontaneous change in a gene (known as a mutation) in someone whose parents do not have Fabry disease.

Although both sexes can get Fabry disease, males tend to be affected more severely than females.

When should I see my doctor?

If you think you might have symptoms of Fabry disease, or if someone in your family has 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 advice for monitoring your symptoms and managing the condition.

How is Fabry disease diagnosed?

Your doctor can diagnose Fabry disease by referring 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.

Often Fabry disease can be misdiagnosed for many years because it is rare and causes so many different symptoms.

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?

Currently there is no cure for Fabry Disease.

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.

There is a newer type of treatment available called oral chaperone therapy. This is taken as a pill. It is only suitable if you are over 16 years old and 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.

You can ask your doctor if these treatments are suitable for you.

Living with Fabry disease

Not everyone with Fabry disease develops serious symptoms. It can however cause many serious physical and emotional problems.

Treatment can help relieve your symptoms. It can slow down your disease. This means you should still be able to do your normal day-to-day activities and enjoy a fulfilling life.

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

Complications of Fabry disease

Sometimes, Fabry disease can cause serious complications such as:

• kidney failure
• heart attack
• stroke
• shortened life expectancy

Resources and support

• Fabry Australia is a non-profit organisation that unites and supports the Australian Fabry community.
• You can learn more about Fabry disease by reading the 'Understanding Fabry disease' fact sheet published by Fabry Australia.
• Rare Voices Australia is the national peak body for Australians living with a rare disease and has a helpline that can give you reliable information and connect you with services.
• If you or someone you care about are struggling with a diagnosis or symptoms of Fabry disease, visit Head to Health or call 1800 595 212 for advice and to get connected to local mental health services.