Diagnosis :People who have Fabry disease don’t have the enzymes that break down lipids or fats. These fats collect in blood vessels and tissue, raising the risk of heart attack, stroke and kidney failure. This genetic condition is passed from parent to child. Enzyme replacement and oral chaperone therapy can help prevent serious complications.

What is Fabry disease?

Diagnosis: People who have Fabry disease don’t produce enough healthy versions of an enzyme (blood chemical) called alpha-galactosidase A (alpha-GAL). These enzymes prevent sphingolipids, a fat-like substance, from collecting in blood vessels and tissue.

Without functioning alpha-GAL enzymes, harmful levels of sphingolipids build up in blood vessels and tissues. Fabry disease affects the heart, kidneys, brain, central nervous system and skin. It is an inherited condition passed from parent to child. It’s sometimes called Anderson-Fabry disease.

What are the types of Fabry disease?

The types of Fabry disease reflect a person’s age when symptoms first appear. Types include:

  • Classic type: Symptoms of classic Fabry disease appear during childhood or the teenage years. One hallmark disease symptom — a painful burning sensation in the hands and feet — may be noticeable as early as age two. Symptoms get progressively worse over time.
  • Late-onset/atypical type: People with late-onset Fabry disease don’t have symptoms until they’re in their 30s or older. The first indication of a problem may be kidney failure or heart disease.

How common is Fabry disease?

Approximately one out of every 40,000 males has classic Fabry disease. Late-onset or atypical Fabry disease is more common. It affects about one in every 1,500 to 4,000 males.

Experts aren’t sure how many females have Fabry disease. Some females don’t have symptoms or have mild, easy-to-dismiss symptoms, so the condition frequently goes undiagnosed in women.

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