What Is Fabry Disease?

Fabry disease runs in families. It can have lots of different symptoms, including pain in the hands and feet and a specific kind of rash.

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

Causes

It passes 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.

Symptoms

• Pain and burning in your hands and feet that gets 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

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 have symptoms. They’ve often seen several different doctors for various symptoms and sometimes get the wrong diagnosis.

Treatment

There are two treatments.

• The most common is enzyme replacement therapy (ERT), which replaces the enzyme that’s missing or isn’t working correctly. This allows your body to break down fatty acid substances the way it should. It’ll also help ease the pain and other symptoms that Fabry disease causes. You will probably visit an outpatient centre 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 that aren’t working. This also helps ease the effects of the disease on your organs.

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

Journal of Nephrology and Urology is an Open Access peer-reviewed publication that discusses current research and advancements in diagnosis and management of kidney disorders as well as related epidemiology, pathophysiology and molecular genetics.

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Regards

Maya Wilson
Editorial Assistant
Journal of Nephrology and Urology