Fabry Disease, also known as angiokeratoma corporis diffusum, is a rare lysosomal storage genetic disease. Symptoms of Fabry Disease often start in the childhood, when it is difficult to understand the symptoms. This is an inherited disease in the X-linked manner. This disease can cause a wide range of systemic symptoms such as:
• Pain – either localized or pain in the extremities
• Kidney related complications
• Cardiac manifestations
• Dermatological manifestations
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?
Fabry Disease is also known as a storage disorder.