About Fabry Disease

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.   The disease was first described in 1897 by Dr  Anderson in the UK and subsequently by Dr Fabry in Germany one year later.

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).

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.

Fabry Throughout Life

Fabry disease causes a variety of symptoms, many of which may be mistaken for those of other diseases. Therefore, diagnosis can be very challenging and may be delayed for years or even decades. Yet early diagnosis is important.

The following section describes common signs and symptoms of Fabry disease at different stages of life. If you or a family member are experiencing these symptoms and a cause has not been determined, be sure to discuss them with your doctor.

^{Fabry disease in children}

Although GL-3 may begin accumulating even before birth, signs and symptoms of accumulation may not be evident until early to late childhood. Even then, these symptoms may be attributed to other diseases. Being aware of the types of symptoms children may experience can help lead to early recognition of the disease.

The chart below lists some common signs and symptoms of Fabry disease in children.

^{Fabry disease in adolescents}

Teenagers may experience additional signs and symptoms. Gastrointestinal problems, skin rash, and fatigue tend to become more common in adolescence.

^{Fabry disease in adults}

By the time a Fabry patient has reached adulthood, significant buildup of GL-3 in the cells may have occurred, and new signs and symptoms related to organ damage may appear.

The figure below highlights many of the signs and symptoms that adults with Fabry may experience.