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Fabry Disease

What is Fabry disease?

A genetic, lysosomal storage disorder, Fabry disease occurs with a specific kind of fat known as globotriaosylceramide that builds up in the cells, which the body is not able to process. The buildup, which typically starts in childhood, can cause a variety of symptoms that impact numerous areas of the body. As symptoms worsen, they can become life-threatening, including stroke, heart attack, and acute damage to the kidneys. However, everyone is different. Some people do not experience acute symptoms as their disease onset may be later in adulthood. In these situations, Fabry disease primarily impacts the kidneys or the heart. Out of 40,000-60,000 males, only one male is typically affected. While many of the standard medical textbooks describe heterozygous women as being asymptomatic or having only mild symptoms, The Fabry Outcome Survey showed that the majority of females exhibit pain, cerebrovascular events, GI symptoms, and less frequently, severe renal involvement. The lag in medical  textbooks  has led, and to a lack of recognition and monitoring, and to the understatement of women with Fabry disease.

What are the symptoms of Fabry disease?

Common symptoms include:

  • Recurring pain in the feet and hands (acroparesthesias)
  • Small bundles of red spots on the skin that tend to be dark (angiokeratomas)
  • Loss of the capacity to sweat (hypohidrosis)
  • Dull, cloudy vision (corneal opacity) located in the visible, outer side of the eye
  • Gastrointestinal issues
  • Loss of hearing
  • Tinnitus (roaring or ringing in the ears)

How is Fabry disease diagnosed?

It’s important to know that in the United States, states differ when it comes to newborn screenings for genetic disorders. Fabry disease can be diagnosed if the doctor orders it to be included in newborn screening tests. It’s important to discuss your questions and concerns with your doctor—especially if test results come back slightly elevated, or out of the norm. Keep in mind, however, that there are a variety of reasons why blood levels may initially appear abnormal, even including human error. This is why it’s important to request additional screening with your child’s doctor. Do not delay with follow-up tests as the disease can progress rapidly in some infants. 

Types of tests may include urine and blood tests, which your doctor will discuss with you.

What treatment options are available for Fabry disease?

Although there is no FDA-approved treatment for Fabry disease, it is possible to help manage the symptoms and hopefully lessen the chance of having complications in the future.

  • Following a special diet that avoids specific fats. Working with a nutritionist can be helpful
  • Consuming medications and supplements prescribed by a doctor may be beneficial. One option may be enzyme replacement therapy (ERT).
  • ACE inhibitors have also been shown to be helpful to lessen protein excreted in the urine, used to lessen the chance of developing kidney failure.
  • Aspirin has been known to lessen the chance of kidney failure, heart disease, and stroke.

Techniques Helpful to Reduce and Manage Pain:

  • Limiting activities that may be strenuous
  • Naps can help babies and young children to conserve their energy
  • Drinking plenty of water

Where can I find more information about Fabry disease?

Fabry Disease Articles