What Is Gaucher Disease?
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. It's a rare condition that can cause a variety of symptoms, from weakening of your bones to easy bruising.
Although there's no cure, it's important to keep in mind that 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 it down doesn't work right. The fat builds up, especially in your liver, spleen, and bone marrow, causing problems.
There are three main types of Gaucher disease. Type 1 is the most common. If you have it, your symptoms may be mild, moderate, or severe, but some people don't notice any problems at all. There are several treatments for type 1.
Type 2 and type 3 are more serious. Type 2 affects the brain and spinal cord. Babies with type 2 usually don't live past age 2. Type 3 also causes damage to the brain and spinal cord, but symptoms usually show up later in childhood.
Gaucher disease can have many symptoms, including a swollen belly, bruising, and bleeding.
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 you're the parent of a child who has it, it's important to get support to help you face the challenges ahead. Reach out to your family and friends to get the backing you need. Ask your doctor about how to join a support group, where you can meet other people who are going through the same things you are.
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.
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.
How you feel depends on what type of Gaucher disease you've got.
Type 1. It's the most common form. It usually doesn't affect your brain or spinal cord.
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 mild and you won't notice any problems.
Some symptoms you might have are:
- Easy bruising
- Enlarged spleen or liver, which makes your belly look swollen
- Bone problems like pain, breaks, or arthritis
Type 2. It affects the brain and spinal cord and is very serious. Babies with this form usually don't live past age 2. The symptoms include:
- Slow back-and-forth eye movement
- Not gaining weight or growing as expected, called "failure to thrive"
- High-pitched sound when breathing
- Brain damage, especially to the brain stem
- Enlarged liver or spleen
Type 3. This type also affects the brain and spinal cord. The symptoms are similar to type 2, but they usually show up later in childhood and take longer to get worse.
Perinatal lethal Gaucher disease. This is the most severe type. An infant with this form usually lives only a few days. These symptoms are overwhelming for a newborn:
- Too much fluid in the baby's body before or soon after they're born
- Dry, scaly skin and other skin problems
- Enlarged liver and spleen
- Severe brain and spinal cord problems
Cardiovascular Gaucher disease (type 3C). This is rare and mainly affects your heart. You might have symptoms like:
- Hardening of the heart valves and blood vessels
- Bone disease
- Enlarged spleen
- Eye problems
Getting a Diagnosis
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.
Questions for Your Doctor
- Will my symptoms change over time? If so, how?
- Which treatments are best for me?
- 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 put me at risk for any others?
- 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 you treat it depends on what type of Gaucher disease you have.
Enzyme replacement therapy is one option for people who have type 1 and some with type 3. It helps reduce anemia and shrinks an enlarged spleen or liver.
Enzyme replacement therapy medications may include:
There's no treatment that can stop type 3 from causing damage to the brain, but researchers are always looking for new ways to fight the disease.
Other treatments that can help your 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.
What to Expect
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 may want to 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 for you.
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, you may need to avoid contact sports or limit your activity. Some people have severe 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 severe symptoms, you may need regular help 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.