How To Treat Fabry's Disease

October 1, 2023

Fabry's disease is a rare genetic disorder that affects every one in forty thousand males and some females. It is caused by a deficiency of the enzyme alpha-galactosidase A. Multiple regions of the body can be affected by Fabry's disease, and symptoms range from ringing in the ears and hearing loss to a burning sensation covering the skin, gastrointestinal problems, and major organ complications. Patients with Fabry's disease have a life expectancy of fifty-eight years in males and seventy-five in females, though the disease is far more prevalent in men than women. If you or a loved one have been diagnosed with Fabry's disease, there are some treatment options available that may reduce symptoms and improve the condition.

Hemodialysis

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Over time, Fabry's disease causes fat to build up on cells and organ tissues, which can lead to kidney failure and heart complications. Patients are unable to make the natural enzyme alpha-GAL, which helps break down certain fats so the body can process and pass them. In many cases, the first course of treatment for Fabry's disease is enzyme replacement therapy.

In cases where kidney failure or damage has occurred, hemodialysis is the go-to treatment. Dialysis performs the processes kidneys no longer can by separating water, salt, and other toxins from the body. The processes undertaken during dialysis keep a patient's body functioning, but it is most frequently done while a patient is waiting for a transplant.

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Kidney Transplant

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End-stage renal disease caused by Fabry's disease requires a kidney transplant. Patients who have undergone a transplant to treat the symptoms of Fabry's disease have had favorable outlooks and gone on to live with functioning kidneys for up to twenty-five more years.

The long-term outcome for a Fabry's disease kidney transplant makes it a good option for patients who need it. The waiting list for a transplant is long, so many patients spend years on dialysis waiting to get matched with a donor. Although this can be a tiresome process, the final results and prognosis are good and worth waiting for.

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Hearing Aids

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In some cases, the symptoms of Fabry disease aren't life-threatening but still negatively impact and complicate an individual's day-to-day life. Many patients with Fabry's disease experience progressive hearing loss throughout their lives and eighty-five percent of male patients over fifty require a hearing aid.

Hearing aids are relatively affordable ways of regaining confidence and capability in an individual's life. A hearing aid increases communication and makes it easier to socialize with others and get around on your own.

Many patients also report suffering from tinnitus, which hearing aids can't help with. However, if hearing loss is present, getting a hearing aid to regain total or near-total hearing ability is a worthwhile pursuit.

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Balanced Diet

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Because individuals who have Fabry's disease cannot break down fats the same way others can, a balanced diet with low fats can greatly reduce symptoms and improve the overall quality of life. Eating a special, Fabry-friendly diet can help patients reduce symptoms, feel more energized and maintain a healthy body weight. For patients whose disease cause them to experience gastrointestinal problems, a special diet that is low in fat and free of other common irritants can provide a permanent solution to painful symptoms.

Collaborating with a doctor on what foods are best for Fabry’s disease is recommended as symptoms vary among patients.

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Regular Exercise

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There are many health benefits to regular exercise, even for individuals who don't suffer from Fabry's disease. Exercising improves heart health, lowers stress levels, and so much more. Patients who routinely excise demonstrate reduced fatigue and greater body strength.

Some patient's with Fabry's disease exhibit exercise intolerance due to their decreased ability to sweat. Because of this, they are more prone to overheating and cannot tolerate physical exertion well, so they are at a heightened risk of heart attack or other complications. Exercising with Fabry's disease shouldn't be done unless a patient has received a doctor's guidance and approval.

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