Fabry Disease Overview

A lysosomal storage disorder

Fabry disease is an inherited disorder. It is one of a family of hereditary diseases called lysosomal storage disorders that affect the way certain important chemicals are processed in the body. Fabry disease is rare; it is found in roughly 1 in 117,000 people.1

In a lysosomal storage disorder, certain structures in cells, called lysosomes, have trouble metabolizing (breaking down) specific complex fatty molecules. As a result, the lysosomes fill up with these undigested molecules, impairing the cell’s ability to function properly.

In the case of Fabry disease, cells store up a fatty substance called globotriaosylceramide (pronounced glow-bow-try-oh-sill-ser-ah-mide) or GL-3.2 Over time, excessive build-up of GL-3 in some cell types can cause damage (sometimes severe) in tissues throughout the body.

What causes GL-3 build-up?

Globotriaosylceramide is a natural substance in the body, made of sugar and fat. GL-3 is normally cleared out of cells with the help of an enzyme called alpha-galactosidase A (pronounced al-fa-ga-lak-toe-si-daze A) or alpha-GAL.3 The alpha-GAL enzyme breaks down GL-3 into smaller particles that can leave cells, enter the bloodstream, and eventually be eliminated from the body or reused.

With Fabry disease, the body doesn’t produce enough functional alpha-GAL to break down the GL-3. Because it is not broken down, the GL-3 accumulates in cell lysosomes. Too much GL-3 accumulation eventually leads to cell damage.4

FLASH: A slide of cell damage

Why diagnosis is often delayed

Fabry disease is associated with a wide range of symptoms, including problems in the heart, kidneys, skin, brain, and gastrointestinal system. Since many of these symptoms can also be found in other diseases, Fabry disease may not be suspected, and diagnosis may be delayed. Many people may actually go decades before getting diagnosed. Data from the Fabry Registry report a large gap between the average age of symptom onset (10.5) and diagnosis of Fabry disease (28.5).5

With this in mind, one of the aims of this website is to spread awareness of Fabry disease and its symptoms. The earlier the diagnosis, the earlier doctors can start managing disease symptoms.

Learn more about signs and symptoms »

How Fabry disease affects families

Fabry disease runs in families. If one person in your family is known to have Fabry disease, there’s a good chance that others do, too. This makes the diagnosis of Fabry disease something that affects the entire family. A genetic counselor can help guide families through the process of learning about Fabry disease and figuring out which relatives may have the disease.

Learn more about inheritance »

Video clip: About Fabry Disease

If you or someone in your family has Fabry disease, you may want to hear what Catherine Bove, a Nurse Genetic Specialist at Massachusetts General Hospital, has to say.

References:

1. Warnock MD, G David. Renal Aspects of Fabry Disease. Nephrology Rounds. 2003;1. Page 1, Paragraph 4, Sentence 3

2. Sweeley CC, B Klionsky. Fabry's Disease: Classification As A Sphingolipidosis And Partial Characterization Of A Novel Glycolipid. J Biol Chem. 1963;238:3148-3150. Page 3149, Table 1

3. Warnock MD, G David. Renal Aspects of Fabry Disease. Nephrology Rounds. 2003;1. Page 2, Figure 1

4. Warnock MD, G David. Renal Aspects of Fabry Disease. Nephrology Rounds. 2003;1. Page 2, Column 1, Paragraph 1, Sentence 2

5. Fabry Registry