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.

The symptoms described below are some of the more severe signs seen in patients with Fabry's disease.

Tinnitus

Tinnitus is a persistent ringing in the ears, and it may be accompanied by hearing loss. Patients with Fabry's disease who are experiencing this symptom should see an ear, nose, and throat specialist for an evaluation. They will examine the patient's ears and do a hearing test. CT scans or other imaging studies may be useful in confirming the presence of tinnitus. While there is no cure for tinnitus, specialists can provide masking devices for patients to wear to block out the ringing sound. The specialist may also remove excess wax buildup within the ears to reduce discomfort. Some patients with ringing in the ears may benefit from taking medications also used to treat depression and anxiety, and counseling and support groups can help individuals with tinnitus learn coping strategies to improve the management of this disorder. Patients will have frequent follow-ups with their specialist to evaluate their progress.

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