Without this enzyme, certain fatty substances (primarily one called globotriaosylceramide, or GL-3) are not broken down and removed from the body, and instead stay in the cells. The result is a build-up of this fatty substance in the walls of blood vessels and other tissues over time. It is this accumulation that starts in early childhood that causes most of the problems associated with Fabry disease.

Vascular Endothelium- GL-3 accumulation

Because the accumulation occurs in blood vessels throughout the body, it leads to a narrowing and eventually a blockage of the vessels found in some of the major organ systems involving the heart, kidney, and brain. By the 4th to 5th decade of life, organ damage can be severe and life threatening.

The clinical presentation as a result of this progressive accumulation varies from individual to individual; this is true even with affected members from the same family. If the signs and symptoms associated with Fabry disease are recognized early, doctors can help manage them better and eliminate some of the troublesome symptoms associated with living with Fabry disease.

That is why it is important to be tested by your doctor if you have concerns (especially if the disease runs in your family). If you have Fabry disease and have not been evaluated, or have not had a family pedigree performed, you should contact one of the treatment centers located throughout New England for an evaluation.