Also known as storage disorder, Fabry Disease leads to the production of a fatty substance in the body that eventually affects various parts of the body such as skin, brain, kidney, heart and nervous system as well. Patients suffering from this genetic disorder lack alpha-galactosidase in their body, an enzyme that breaks the fatty acids. This particular disease can lead to heart attacks, kidney failure, osteoporosis, high blood pressure, etc. In such cases patients experience pain in their hands and feet. The other visible symptoms include hearing problems, poor vision, red spots between belly button and knee, stomach ache and abnormal sweating.
HOW IS FABRY DISEASE DIAGNOSED?
The exact diagnosis may take a longer time. The general physician may ask for a blood test or a DNA test followed by physical examination.
HOW IS FABRY DISEASE TREATED?
Enzyme replacement therapy is one of the treatment methods for Fabry Disease. This is however a very costly treatment method
DID YOU KNOW?
The incidence of Fabry Disease is estimated to be one in 40,000 births