In patients with Fabry disease, globotriaosylceramide accumulates preferentially in the walls of blood vessels. As the abnormal storage of this fatty compound increases with time, the channels of these vessels become narrowed, leading to decreased blood flow and decreased nourishment of the tissues normally fed by these vessels. This process occurs in all blood vessels throughout the body, but particularly affects small vessels in the skin, kidneys, heart, and nervous system. Fabry disease is an inherited disorder. The defective gene is on the X-chromosome, which is one of the two chromosomes that determine an individual's sex.
Females have two X chromosomes, one inherited from each of their parents.
Males have one X chromosome inherited from their mothers and one Y chromosome inherited from their fathers. A female Fabry carrier has one X chromosome with a defective Fabry gene and one X chromosome with the normal gene, and thus is protected from the major manifestations of the disease. Males with Fabry disease have one X-chromosome that contains the abnormal gene and thus, show symptoms of the disease. Figure 2 Fabry disease occurs in all ethnic groups. It is estimated that one person in 40,000 has the disease.