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Treatment Options for Fabry Disease

Reviewed by Brunilda Nazario, MD on April 23, 2021

There’s no cure for Fabry disease. But your doctor most likely will start with one of two main treatments to help you keep your life as normal as possible.

Enzyme Therapy

One type of treatment raises the levels of the missing or faulty enzyme in your body that causes Fabry disease. The other helps your own enzyme work better. You can get these treatments by needle infusion (IV) or with a capsule you take by mouth.

Enzyme replacement therapy. This replenishes the enzyme called alpha-galactosidase A (alpha-Gal A). The FDA has approved only one replacement therapy in the U.S., called agalsidase beta (Fabrazyme). You get it by IV every 2 weeks.

If you’re male, your doctor may want to start treatment right away after diagnosis even if you don’t have symptoms. That’s because you may feel perfectly fine but problems with your kidneys may have already started. 

Fabry disease tends to affect women less severely. So you usually need to be treated only if you show symptoms. Enzyme replacement therapy can cause shivering or a fever. Your doctor can give you a shot of an antihistamine to help prevent this.

Migalastat (Galafold). This is a newer oral medication approved by the FDA in 2018. It’s slightly cheaper and more convenient than IVs. The drug helps the alpha-Gal A enzyme in your body work better. It works for about fewer than half of the people with Fabry disease. Your doctor has to test you for certain gene mutations that have been shown to respond to this drug.

Symptom Management

Fabry disease can also cause uncomfortable symptoms, as well as serious complications like a stroke, heart attack, and kidney damage. That’s why your doctor may recommend other medications to help treat symptoms. These include:

Phenytoin, carbamazepine, or gabapentin. Your doctor may prescribe these anti-seizure medicines to treat episodes of severe burning pain in your hands and feet.

ACE inhibitors. If you already have high blood pressure, this type of blood pressure medication pulls double duty to protect your kidneys. That helps lower the chance that you may need dialysis or even a kidney transplant. People with Fabry disease are more likely to have conditions like an irregular heartbeat. So you may need other heart medications as well.

Gastrointestinal medications. The doctor can give you these if you have vomiting, diarrhea, constipation, nausea, and other tummy problems.

Skin treatments. Fabry disease can dilate small blood vessels on your face. Your dermatologist can remove them during an office visit.

Hearing aids. They may help with the ringing in the ears (tinnitus), dizziness, or hearing loss stemming from narrowing of blood vessels in your ears.

Tests to Monitor Fabry Disease

Fabry disease affects your whole body. And the symptoms tend to get more severe as you age. So it’s important to stay on top of your overall well-being.

Regular health screenings play a key part. You may need these tests at least once a year, and more often if you have other conditions like kidney disease or heart disease.

Blood tests. They check your white and red blood cell counts, as well as your electrolytes and how well your kidneys and liver work.

Urine tests. These look for blood or protein in your pee, which can be an early sign of kidney disease.

Electrocardiogram. This records the electrical signals in your heart to check for an unusual heart rhythm.

Echocardiogram. It uses sound waves to get an image of your heart. This will check for problems with the valves or chambers of your heart.

Hearing test. You may need this annually.

Brain imaging. You may get this every 2 years to look for changes in blood vessels of the brain that can signal risks of stroke.

Your Fabry Disease Care Team

Besides your primary care doctor, you may need to see specialists at least once a year, depending on your symptoms. These include:

  • Neurologists (brain and nervous system)
  • Cardiologists (heart)
  • Nephrologists (kidneys)
  • Ophthalmologists (eyes)

 

WebMD Medical Reference

Sources

SOURCES:

UpToDate: “Fabry Disease: Treatment and Prognosis.”

National Fabry Disease Foundation: “Fabry Disease Treatment.”

Genetic and Rare Diseases Information Center: “Fabry Disease.”

Molecular Genetics and Metabolism: “Fabry disease revisited: Management and treatment recommendations for adult patients.”

Cleveland Clinic: “Fabry Disease: Management and Treatment.”

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