What is Fabry disease?
Fabry disease is a rare condition that can affect males and females of all ages and ethnic backgrounds. It is also a ‘genetic’ condition, which means it is passed through families from parents to their children. Fabry disease was first described in 1898 independently by Drs. William Anderson (England) and Johannes Fabry (Germany). Fabry disease is named after the German doctor – Johannes Fabry, and is sometimes referred to as Anderson-Fabry disease.
Fabry disease can cause a range of health problems. A patient may experience a variety of symptoms related to Fabry disease affecting different organs. In addition, there may be organ damage without any apparent symptoms. For example, early stages of organ damage to the heart or kidneys may not cause anything that is felt by the patient, but these would be apparent in further tests.
Fabry disease is called a progressive disorder because it can get worse (or progress) as time goes on. There is no cure for Fabry disease, but treatments to manage the symptoms and progression of the disease are available.
What causes Fabry disease?
Enzymes are substances produced by cells in the body. Enzymes help chemical reactions take place. There are many different enzymes, which have different actions and allow the body to function normally.
One of the enzymes that the body normally makes is called alpha-galactosidase A enzyme (pronounced ‘al-fa-ga-lak-toe-si-daze A’) – or called alpha-GAL A for short. Alpha-GAL A will break down a fatty substance called globotriaosylceramide (pronounced ‘glow-bow-try-oh-sill-ser-ah-mide’), also called GL-3 or Gb3 for short. In people with Fabry disease, the body does not produce enough alpha-GAL A or it does not work properly. This means that GL-3 cannot be broken down as it normally would and this fatty substance builds up in parts of the cells called the ‘lysosomes’, of the body. GL-3 build-up can damage body cells, so the cells don’t work as well as they once did. This gradually leads to health problems in different parts of the body. In Figure 1 it is shown how GL-3 builds up in the cells of people with Fabry disease. Because of the build-up of GL-3 in the lysosomes, Fabry disease is part of a group called ‘lysosomal storage disorders’.
Fabry disease – build-up of GL-3 due to a lack of alpha-GAL A