Treatments for Gaucher Disease

There are a lot of ways to ease the symptoms of Gaucher disease. There's no cure yet, but medicine and surgery may prevent damage to your organs and help you or your child live a more comfortable life.

Some treatments can only be used by adults. Others are designed for a specific type of Gaucher.

If you or your child has mild symptoms, it's possible you won't need any treatments at all. You can wait to see if your problems get worse before you start to take medicine.

Enzyme Replacement Therapy (ERT)

Most adults and kids with type 1 or type 3 Gaucher disease can get this kind of treatment. It replaces or adds to enzymes that your liver or spleen can't make anymore.

ERT can often help:

  • Shrink the size of your liver or spleen if they get too large
  • Ease anemia that makes you weak or tired
  • Build bone strength to ease pain and prevent breaks

ERT doesn't work as well if you have type 3 disease that gives you brain or nervous system problems like seizures. That's because the drug can't get from your blood into your brain.

There are three ERT drugs to choose from:

  • Imiglucerase (Cerezyme)
  • Taliglucerase alfa (Elelyso)
  • Velaglucerase alfa (VPRIV)

These are IV drugs. The medicine drips into your vein through a small tube. You'll get this treatment that's given every 2 weeks at the doctor's office in a session that takes 1 to 2 hours.

Medicine You Take by Mouth

If you're an adult with type 1 Gaucher, you can take pills that cut down on fats that can build up in your liver, spleen, or bone marrow.

Eliglustat (Cerdelga). It's a newer drug you take twice a day. It may not work well for people who metabolize -- or break down -- the drug too quickly.

Miglustat (Zavesca). You take this if you're an adult with mild to moderate type 1 Gaucher who didn't get any help from ERT. You swallow one capsule three times a day.

Medicine for Weak Bones

Drugs called bisphosphonates can help rebuild your weakened bones. They include alendronate (Fosamax) and pamidronate (Aredia). You or your child can take them.

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Pain Treatments

Kids and adults with Gaucher may also take drugs like acetaminophen (Tylenol) or ibuprofen (Advil, Motrin) for mild pain, or opioids for stronger pain. Antidepressants, anti-anxiety drugs, and muscle relaxers may also help with pain.

Spleen Surgery

You may need an operation to ease symptoms that don't get better with drugs. For example, if ERT didn't help to shrink the size of your swollen spleen, your doctor may suggest surgery to remove that organ.

Bone Marrow Transplant

A few people with Gaucher get this procedure to help them replace damaged blood cells.

It’s a risky treatment, and there are no studies that have compared the effectiveness and safety of it to standard therapy with ERT and SRT.

Joint Replacement Surgery

If your joints are weak and damaged, this kind of operation may help you move better and hurt less.

Blood Transfusion

This can be useful if Gaucher has given you extreme anemia. A blood transfusion can boost your red blood cell count so you feel better.

Diet and Exercise

Both kids and adults with Gaucher should eat a healthy diet with foods rich in vitamin D and calcium to help keep bones strong, and get regular exercise.

Vitamin D, calcium, or other supplements may help ease Gaucher symptoms too. Your doctor may recommend them if he thinks you're not getting enough in your diet.

Whatever treatment you use, keep in mind that researchers are working all the time to find new ways to treat Gaucher in clinical trials. These studies test new drugs to see if they're safe and if they work. They are often a way for people to try new medicine that isn't available to everyone. Talk to your doctor to see if one of these trials might be a good fit for you.

WebMD Medical Reference Reviewed by Louise Chang, MD on August 05, 2018

Sources

SOURCES:

Mayo Clinic: "Gaucher Disease: Treatments and drugs."

National Gaucher Foundation.

National Institute of Neurological Disorders and Strokes.

Gaucher Association: "What is Type 3 Gaucher Disease?"

Genetic Disease Foundation.

Eghbali-Fatourechi, G. Journal of Diabetes and Metabolic Disorders, published online December 2014.

National Gaucher Foundation of Canada: "Treatment Options."

Cochrane Review 2017.

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