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 for the Fabry Disease is usually done by a general physician who would conduct the enzyme assay test. Here the molecular structure of the genes is evaluated and tested for mutations. Kidney biopsy may follow suit.
HOW IS FABRY DISEASE TREATED?
Patients with Fabry disease seek care from a variety of specialists, usually because of the involvement of a number of organ systems. Treatment strategies involve combined efforts from multiple specialties. Treatment for Fabry disease includes enzyme replacement therapy along with medications to treat and prevent other symptoms of the disease. Kidney transplants may be needed in severe cases when renal failure occurs.
DID YOU KNOW?
Fabry disease leads to reduced life expectancy in patients.