What is Fabry disease?

Fabry disease runs in families. It can have many different symptoms, including pain in the arms and legs and a certain type of rash.

When you have Fabry disease, a certain type of fatty substance accumulates in the cells of your body. It constricts blood vessels, which can damage the skin, kidneys, heart, brain, and nervous system.

Your doctor may refer to Fabry's disease as a "storage disorder." It usually begins in childhood and is much more common in men than women.

There are procedures that can change the way you feel every day. It is also very important to get support from family and friends.

Causes

You contracted Fabry disease from your parents. It is passed down through the genes.

The problem is, your body can't make an enzyme called alpha-galactosidase A, which is needed to break down fatty substances like oils, waxes, and fatty acids. If you have Fabry disease, you were either born without this enzyme or it doesn't work properly.

Symptoms

You may notice things like:

Pain and burning in your hands and feet that get worse with exercise, fever, hot weather, or when you’re tired
Small, dark red spots usually found between your bellybutton and knees
Cloudy vision
Hearing loss
Ringing in the ears
Sweating less than normal
Stomach pain, bowel movements right after eating

Fabry disease can lead to more serious problems, especially in men. These can include:

Higher chance of a heart attack or stroke
Serious kidney problems, including kidney failure
High blood pressure
Heart failure
Enlarged heart
Osteoporosis

Geting a diagnosis

Diagnosis of Fabry disease can take a long time. This is because the symptoms are general and can affect many different parts of the body.

Many people with Fabry disease are not diagnosed for several years after the first symptoms appear. They often went to several different doctors for various symptoms and were sometimes misdiagnosed.

If your family history suggests that you may be at risk for Fabry disease, you may want to ask your doctor for genetic testing.

When you see your doctor, he will perform a physical examination and ask you questions such as:

How are you feeling?
What's concerning you?
What symptoms have you noticed?
When did those symptoms start?
What medical conditions run in your family?
Have you seen other doctors about this problem? What did they tell you?

If your doctor thinks it may be Fabry disease, he or she will ask you to either have a blood test to measure your alpha-galactosidase A level or a DNA test.

Questions for the doctor

When a doctor says you have Fabry disease, this may be the first time you've heard of it. You probably have a lot of questions, especially if you've been trying to figure out what's causing your symptoms for a long time.

You may want to start by asking your doctor questions such as:

How did you diagnose Fabry disease?
How has it affected my body?
How many people with Fabry disease have you treated?
Are there other doctors you would recommend that I see?
What treatment do you recommend?
How will we know if the treatment is working?
What are the side effects?
Do other people in my family need to get genetic testing to see if they have it?
Are my children likely to get Fabry disease?

Treatment

There are two treatments. The most common is enzyme replacement therapy, which replaces a missing or faulty enzyme. This allows your body to break down fatty acids properly. It will also help relieve pain and other symptoms caused by Fabry disease. You will probably visit an outpatient center every few weeks to inject the enzyme into a vein.

A newer option is the oral drug migalastat. It differs from enzyme replacement therapy in that it stabilizes non-functioning enzymes. It also helps to reduce the impact of the disease on your organs.

Your doctor may also recommend:

Medications for pain relief (prescription or over-the-counter)
Medicines for stomach problems
Blood thinners or other medicines for an irregular heartbeat or other heart problems.
A blood pressure medicine that also helps protect your kidneys.

You may need dialysis or a kidney transplant if Fabry disease has caused severe kidney damage.

You can also count on regular tests to track your progress. These may include:

Blood, urine and thyroid tests
ECG. A nurse or other healthcare professional will apply soft, sticky patches to various parts of your body. These patches measure your heart's electrical signals and can tell you how fast your heart is beating and if it's in a healthy rhythm.
Echocardiogram. This is an ultrasound of your heart. It can show if all parts of your heart are healthy and pumping well.
Magnetic resonance imaging of the brain. Magnetic resonance imaging or magnetic resonance imaging provides images of the organs and structures inside your body.
Computed tomography of the head. A CT scan is a powerful x-ray that takes detailed pictures of your body's internal organs.
Hearing and vision test
Lung function test to see how much air you are inhaling and exhaling, as well as how much oxygen is getting into your blood

Taking care of yourself

Be kind to yourself. Do what you love, spend time with good people, and save energy on what really matters to you. This may include saying "no" more often and informing people about things that can help you.

Your family and friends may not know much about Fabry disease. Help them understand what is happening to you. Sometimes when people have serious health problems, they become depressed or anxious because the condition is difficult to manage. Your doctor should check on how you are feeling, but you can talk about it and ask to be referred to a consultant. Talking to someone can help.

Although there is no cure for Fabry disease, treatment can bring your symptoms under control.

Even if you don't feel unwell or have any problems, it's important that you follow the treatment and tests your doctor suggests.