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?
Diagnosis of Fabry Disease is based on the individual’s symptoms. Paediatricians rely on an enzyme assay assessment to determine the alpha-galactosidase activity. This is however, not suitable for females due to X-inactivation. Molecular genetic tests are the best way to confirm diagnosis of Fabry Disease
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.