Serious Symptoms Of Fabry's Disease

Fabry's disease is an inherited condition that develops due to a mutation in the GLA gene. For most patients with this disease, the mutation causes the body to produce insufficient amounts of alpha-galactosidase, an enzyme that breaks down a type of fat called globotriaosylceramide (GL-3). As GL-3 accumulates, it can cause mild to severe symptoms that may lead to serious complications, including heart attacks, strokes, and kidney failure. Fabry's disease is diagnosed more often in men than in women. For males, the symptoms often begin in childhood. Women with Fabry's disease typically develop symptoms later in life than men, and their symptoms tend to be less severe. To diagnose Fabry's disease, patients can have a blood test to check the activity of GAL-A, though since this test may not be as accurate in females, it is recommended a chromosome analysis of the GLA gene be completed as well. Sometimes, a kidney biopsy may be needed to confirm this diagnosis. If possible, patients should go to a specialist for a diagnosis, since Fabry's disease is frequently misdiagnosed by primary care doctors and pediatricians.