Gaucher Disease

Medically Reviewed by Zilpah Sheikh, MD on October 12, 2023
7 min read

Gaucher disease is a rare condition that can cause a variety of symptoms, from weakening of your bones to easy bruising.

There's no cure. But depending on which type you have, treatment can help you manage some of the symptoms.

Gaucher causes problems with the way your body gets rid of a certain kind of fat. With all types of this disease, an enzyme you need to break fat down doesn't work right. Fat builds up, especially in your liver, spleen, and bone marrow, and causes problems.

There are three main types of Gaucher disease. Type 1, also known as non-neuronopathic Gaucher, is the most common. If you have it, your symptoms may be mild, moderate, or serious. Some people don't have any at all. There are many treatments for type 1.

Type 2 and type 3 are more serious. Both affect the central nervous system. Babies with type 2 usually don't live past age 2. Type 3 also causes damage to the brain and spinal cord, but symptoms show up later in childhood. Your blood might not clot well, or you might get anemia. It can also cause bone mineral loss that leads to pain and easily broken bones.

It's passed along in families -- about 1 in 450 people of Ashkenazi Jewish descent (from Eastern and Central Europe) have the condition. It's the most common genetic disease that affects Jewish people.

Whether you have the disease or are the parent of a child who has it, it's important to get support from family, friends, and perhaps a support group. 

Gaucher disease isn't something you "catch," like a cold or the flu. It's an inherited condition that's caused by a problem with the GBA gene and passed down through your family.

You get the disease when both of your parents pass along a damaged GBA gene to you. You can pass a faulty gene on to your children even if you don't have Gaucher disease.

Symptoms vary a lot from person to person and depend in part on what type of Gaucher disease you've got.

Type 1. Symptoms of type 1 can appear at any time in your life, but they usually show up by the teen years. Sometimes the disease is so mild you won't notice any problems.

Some symptoms you might have are:

  • Easy bruising, caused by low levels of blood platelets
  • Nosebleeds
  • Tiredness, caused by anemia (low levels of red blood cells)
  • Enlarged spleen or liver, which makes your belly look swollen
  • Bone problems like pain, breaks, or arthritis
  • Lung disease

Type 2. This very serious type affects infants, usually when they're 3 to 6 months old. Symptoms include: 

  • Slow back-and-forth eye movement
  • Not gaining weight or growing as expected, called "failure to thrive"
  • A high-pitched sound when breathing
  • Seizures
  • Brain damage, especially to the brain stem
  • Enlarged liver or spleen
  • Inability to swallow
  • Pneumonia
  • Throat muscle spasms
  • Collodion skin, which looks like a thin, shiny coating
  • Slow heart rate
  • Infections
  • Lung problems
  • Bluish skin

Perinatal lethal Gaucher disease. An infant with this form of type 2 usually lives only a few days. The symptoms include:

  • Too much fluid in the baby's body before or soon after they're born
  • Dry, scaly skin (called ichthyosis) and other skin problems
  • Enlarged liver and spleen
  • Serious brain and spinal cord problems
  • Swollen stomach
  • Unusual facial features

Type 3.Like type 2, it starts in childhood, but usually at a later age. The timing varies, but it usually shows up by the teen years.  

Type 3 brings the same blood and bone problems that type 1 does and also causes symptoms like:

  • Trouble moving eyes side to side or up and down
  • Lung disease that gets worse
  • A slow breakdown in mental ability
  • Problems controlling arms and legs
  • Muscle spasms or shocks

Your child may feel very ill and might need help to eat or get extra nutrition. As type 3 symptoms get worse, they may need help to dress, bathe, or get around the house. With the right treatments, people with type 3 can live into their 20s or 30s.

There are technically three varieties of type 3 Gaucher: 3a, 3b, and 3c. But their symptoms often overlap. Type 3b may cause liver or spleen problems earlier. Type 3c, also called cardiovascular Gaucher disease, mostly affects your heart.

Cardiovascular Gaucher disease (type 3c). This rare type causes symptoms like:

  • Hardening of the heart valves and blood vessels
  • Bone disease
  • Enlarged spleen
  • Eye problems

When you go to your doctor, they might ask:

  • When did you notice your symptoms?
  • What's your family's ethnic background?
  • Have past generations of your family had similar medical problems?
  • Did any children in your extended family pass away before age 2?

If your doctor thinks it's Gaucher disease, they can confirm that with a blood or saliva test. They'll also do tests regularly to track the condition. You may have an MRI (magnetic resonance imaging) scan to see if your liver or spleen is swollen. You might also get a bone density test to check for any loss of bone.

When Gaucher disease runs in your family, blood or saliva tests can help you find out if you could pass the disease to your child.

If you just found out that you or your child has Gaucher disease, it's natural to have lots of questions and concerns about what to expect. Some things you may want to ask your doctor include:

  • Will the symptoms change over time? If so, how?
  • Which treatments are best?
  • Do these treatments have side effects? What can I do about them?
  • Is there a clinical trial that could help?
  • Are there new symptoms I should watch for?
  • How often do I need to see you?
  • Are there other specialists I should see?
  • Does having this disease mean I have a higher chance of getting other diseases?
  • Should I add my name to a Gaucher disease registry?
  • If I have more children, what are the chances they'll have Gaucher disease?

How your doctor treats Gaucher disease depends on several things. Some treatments can only be used by adults. Others are designed for a specific type of Gaucher. If your symptoms are mild, you may not need any treatment.

Enzyme replacement therapy (ERT) is one choice for people who have type 1 and some with type 3. It helps ease anemia, build bone strength to ease pain and avoid breaks, and shrinks an enlarged spleen or liver.

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.

Enzyme replacement therapy medications include:

  • 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 every 2 weeks at the doctor's office in a session that takes 1 to 2 hours.

Other medications for type 1 are eliglustat (Cerdelga) and miglustat (Zavesca). You take them as pills. They curb the process in your body that leads to fat buildup when you have an enzyme shortage.

Eliglustat is a newer drug you take twice a day. It may not work well for people whose bodies break down the drug too quickly. Miglustat is for adults with mild to moderate type 1 Gaucher who weren't helped by ERT. You swallow a capsule three times a day. 

There's no treatment that can stop type 3 from damaging the brain, but researchers are always looking for new ways to fight the disease.

Other treatments that can help symptoms are:

  • Blood transfusions for anemia
  • Medications to strengthen your bones, prevent the buildup of fat, and ease pain
  • Joint replacement surgery to help you move better
  • Surgery to remove a swollen spleen
  • Stem cell transplant to reverse type 1 symptoms. This procedure is complicated and can cause both short-term and long-term problems, so it's rarely used.
  • Pain treatments. Kids and adults with Gaucher may take drugs like acetaminophen or ibuprofen for mild pain or opioids for stronger pain. Antidepressants, anti-anxiety drugs, and muscle relaxers may also help with pain.
  • Vitamin D, calcium, or other supplements may help ease Gaucher symptoms too. Your doctor may recommend them if they think you're not getting enough in your diet.

Because the disease is different for each person, you'll need to work with your doctor to make sure you're getting the right care. Treatment can help you feel better and might help you live longer.

You might consider joining a clinical trial. Scientists use them to study new methods to treat Gaucher disease. These trials test new drugs to see if they're safe and if they work. They often are a way for people to try new medicine that isn't available to everyone. Your doctor can tell you if one of these trials might be a good fit.

If your child has Gaucher, they might not grow as quickly as other kids. They might be late in reaching puberty.

Depending on your symptoms, they may need to avoid contact sports or limit your movement. Some people have very bad pain and fatigue. It may take extra effort to be active. Little things can make a big difference, though. For example, wheelchairs or crutches can help when you're having trouble walking. Naps are also useful.

If you have serious symptoms, you may need help every day and might not be able to live alone.

Whether you have the disease or are caring for someone who has it, this is a tough condition to manage. When you get the support of others who face the same challenges, it can help you feel less isolated. Sharing information and tips can help make your daily life easier.

Think about getting professional counseling. It might also help you manage your feelings and frustrations about living with Gaucher disease.

You can get information on resources and support groups from the National Gaucher Foundation.

The organization has a mentor program that lets you connect with others who have the disease to share experiences and ideas for living with your condition.