What Is Fabry Disease?
Your doctor may call Fabry disease a "storage disorder." It usually starts in childhood and is much more common in men than women.
There are treatments that can make a difference in how you feel, day-to-day. Getting support from your family and friends is key, too.
You get Fabry disease from your parents. It's passed down through genes.
The problem is that your body can't make an enzyme called alpha-galactosidase A, which you need to break down fatty substances like oils, waxes, and fatty acids. When you have Fabry disease, you either were born without that enzyme or it doesn’t work right.
You may notice things like:
- Pain and burning in your hands and feet that get worse with exercise, fever, and hot weather or when you are tired
- Small, dark red spots usually found between your belly button 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:
Getting a Diagnosis
It can take a long time to get diagnosed with Fabry disease. That's because the symptoms are common and can affect so many different parts of the body.
Many people who have Fabry disease don't get diagnosed until years after they first had symptoms. They have often seen several different doctors for various symptoms and sometimes get the wrong diagnosis.
If your family history suggests you could be at risk for Fabry disease, you may want to ask your doctor about getting genetic testing.
When you see your doctor, he will do a physical exam and ask you questions like these:
- 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?
Questions for Your Doctor
When your doctor says you have Fabry disease, that 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 for a long time what's causing your symptoms.
You may want to start by asking your doctor questions like these:
- 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?
There are two options available for treatment. The most common has been enzyme replacement therapy (ERT) which replaces the enzyme that is missing or not working correctly. This allows your body to break down fatty acid substances the way it should. It will also help ease the pain and other symptoms that Fabry disease causes. You will probably visit an outpatient center every few weeks to get the enzyme injected into a vein.
A newer option is the oral medication migalastat (Galafold). It differs from ERT in that it works to stabilize the enzymes which are not working. This also helps ease the effects of the disease on your organs.
Your doctor may recommend that you also take:
You can also expect to get regular tests to keep track of how you're doing. These may include:
- Blood, urine, and thyroid tests
- EKG (electrocardiogram). A nurse or other medical professional will attach soft, sticky patches to different parts of your body. These patches measure electrical signals from your heart and can tell how fast your heart is beating and if it has a healthy rhythm.
- Echocardiogram. This is an ultrasound of your heart. It can show if all the parts of your heart are healthy and if it’s pumping well.
- Brain MRI. An MRI, or magnetic resonance imaging, makes pictures of organs and structures inside your body.
- CT of your head. CT, or computed tomography, is a powerful X-ray that makes detailed pictures of the inside of your body.
- Hearing and eye exams
- Lung function test to see how much air you breathe in and out, and how much oxygen is getting to your blood
Taking Care of Yourself
Be good to yourself. Do things that you enjoy, spend time with people who are good company, and save your energy for the things that really matter to you. Part of that may involve saying "no" more often, and letting people know what would help you. That's OK to do!
Your family and friends may not know much about Fabry disease. Help them understand what's going on with you. Sometimes, when people have serious health conditions, they get depressed or anxious because the condition is a lot to deal with. Your doctor should check on how you're feeling, but you may want to bring it up and ask for a referral to a counselor. Talking to someone can help a lot.
What to Expect
Although there is no cure for Fabry disease, treatment can bring your symptoms under control.
Even though you may not feel sick or seem to be having any problems, it's important that you follow up with treatments and tests as your doctor suggests.
You can find others living with Fabry disease and their caregivers through the Fabry Support & Information Group.