In patients with Fabry disease, this accumulation occurs primarily in the blood and 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 supplied by these vessels. This abnormal process occurs in blood vessels throughout the body, particularly affecting vessels in the skin, kidneys, heart, brain and nervous system. Disease Inheritance 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 mother and one Y chromosome inherited from their father. A female Fabry carrier has one X chromosome with a defective Fabry gene and one X chromosome with the normal gene, and thus is usually protected from the major manifestations of the disease. Males with Fabry disease have only one abnormal X chromosome that contains the abnormal gene and thus express the disease. If the father is the one carrying the Fabry gene all female children will inherit the defective gene and all male children will not. Fabry disease occurs in all ethnic groups.