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Doctors for Fabry Disease in Kolhapur
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Fabry Disease is defined as a rare genetic lysosomal storage disease. Research shows that this disease is kind of inherited in the X-linked manner or form. One of the common symptoms of the same includes a dysfunctional metabolism rate that can cause extreme obesity and weight loss cycles. The early symptoms start off in childhood and are often misdiagnosed.
HOW IS FABRY DISEASE DIAGNOSED?
The diagnosis of Fabry disease is frequently made by physicians who recognize the pain in the extremities, absent or decreased sweating (anhidrosis or hypohidrosis), typical skin lesions (angiokeratoma), gastrointestinal abnormalities, corneal involvement, renal insufficiency, and heart symptoms present in childhood, adolescence or adulthood. The standard test to diagnose Fabry disease is a measurement of leukocyte alpha-Gal A enzyme activity. This test can detect the presence of the mutation for Fabry disease in males.
HOW IS FABRY DISEASE TREATED?
In most of the cases, Fabry Disease treatment includes an Enzyme Replacement Therapy (ERT), which essentially replaces the missing enzyme so that the body can break down fatty substances the way it should.
DID YOU KNOW?
Fabry disease is estimated to affect 1 in 40,000 males. Fabry disease is a progressive disorder and symptoms that affect the kidneys, heart, or brain most often occur when patients are age 30 to 45 years.