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?
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?
It affects the patient right from the childhood and is more common in males.