Fabry disease is a rare inherited disorder in which the body cannot properly break down a fatty substance called globotriaosylceramide (GL-3, also called Gb3). This occurs due to a deficiency of the enzyme alpha-galactosidase A (α-GAL A). Over time, this substance accumulates inside cells and affects organs such as the kidneys, heart, nervous system, and skin, interfering with their function.
Symptoms often begin in childhood or adolescence and may include burning pain in the hands and feet, reduced sweating, skin spots (angiokeratomas), stomach problems, and extreme tiredness. As the disease progresses, it can lead to kidney damage, heart problems, and stroke. Because early symptoms are often overlooked, diagnosis may be delayed.
The main risk factor for Fabry disease is having a family history of the condition, as it is passed down from parents to children through genes. Although Fabry disease has no complete cure, early treatment and regular monitoring can slow progression, protect organs, and improve quality of life.
