Fabry Disease Overview

Fabry disease is a rare hereditary disorder caused by a faulty gene in the body. It affects more males than females: It is estimated that 1 in 40,000 males has Fabry disease, whereas the estimated prevalence in the general population is 1 in 117,000 people.

Hereditary (or genetic) disorders are those that are passed down from parents to their children through the genes. One or both parents may carry an abnormal gene that, when passed along to their children, can result in disease. Since the Fabry disease gene is located on the X chromosome, the disease primarily affects males (although some females can also experience symptoms). For more information on inheritance of genetic diseases, see the How Fabry is Inherited page of this website.

When people inherit the abnormal gene that causes Fabry disease, their bodies cannot produce enough of an important enzyme called alpha-galactosidase A (pronounced al-fa-ga-lak-toe-si-daze a) or alpha-GAL. Alpha-GAL is needed to clear certain cells in the body of a fatty substance called globotriaosylceramide (pronounced glow-bow-tri-oh-syl-ser-a-mide) or GL-3.

Alpha-GAL helps clear GL-3 from the cells by breaking it down into particles small enough to leave the cell and enter into the blood stream. Once these particles enter the blood stream, they are either eliminated or reused to build other substances.

Without enough alpha-GAL, GL-3 cannot be broken down into smaller particles. Therefore, GL-3 cannot leave the cells and instead accumulates inside. Over time, this buildup of GL-3 causes damage to the cells.

The most commonly affected cells are found in blood vessels and tissues of the kidney, heart, skin, and brain. The buildup of GL-3 in these cells can eventually lead to life threatening problems.

Because Fabry disease is rare and causes a wide variety of symptoms, it can be mistaken for other diseases. Therefore, people may have the disease for a long time before it is accurately diagnosed. This is a concern because the longer a person has Fabry disease, the more damage is likely to occur in the body’s organs and tissues and the more serious the person’s condition may become. The earlier Fabry disease is diagnosed, the earlier doctors can start treatment to manage symptoms and try to prevent further health problems.

One way to increase the likelihood of early diagnosis is to learn about the disease and who is at risk of developing it. For example, Fabry disease is inherited and people whose family members have the disease are more likely to have the disorder than others without a family history. It may also help to learn about the symptoms of Fabry disease, as well as how and when these symptoms may arise.

To learn more about the signs and symptoms associated with Fabry disease, visit the Signs & Symptoms area of this site.