Gaucher's Disease

What Is Gaucher's Disease?

This condition causes problems with the way your body gets rid of a certain kind of fat.

With all types of the disease, an enzyme needed to break down this fat in your body 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's disease. Type 1 is the most common. If you have it, your symptoms may be mild, moderate, or severe. Some people have no symptoms 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.

There are treatments for Gaucher's disease. Still, living with any chronic illness is stressful. That's especially true if you're the parent of a child with Gaucher's. Getting help and support are key to giving your child the best quality of life while facing the challenges and stress this illness brings.

Gaucher's 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.

Causes

Gaucher's disease is inherited. It'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's disease.

Symptoms

Your symptoms depend on what type you have.

Type 1. This is the most common form. It usually doesn't affect the 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 symptoms. The warning signs include:

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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:

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's 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 birth
  • Dry, scaly skin and other skin problems
  • Enlarged liver and spleen
  • Severe brain and spinal cord problems

Cardiovascular Gaucher's disease (type 3C). This is rare and mainly affects the heart. Its symptoms include:

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

Getting a Diagnosis

When you go to the doctor with symptoms, they might ask:

  • When did you notice these 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's disease, she can confirm that with a blood test. Your doctor will 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 have a bone density test to check for any loss of bone.

When Gaucher's 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?
  • What 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's disease registry?
  • If I have more children, what are the chances they'll have Gaucher's disease?

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Treatment

Treatment depends on what type of Gaucher's disease you have.

Enzyme replacement therapy is one treatment option for people who have type 1 and some with type 3. It helps make more red blood cells and shrinks an enlarged spleen or liver. Enzyme replacement therapy medications may include:

Other treatment options for type 1 are eliglustat (Cerdelga) and miglustat (Zavesca), which are pills that curb the body's process that forms the fatty materials in people with the enzyme shortage.

There is no treatment that can stop type 3 from causing damage to the brain. Other treatments that can help your symptoms include:

  • Blood transfusions for anemia
  • Medications to strengthen your bones, prevent fatty buildup, 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 is 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.

Researchers are working to find new treatments that help more. You might want to ask your doctor about clinical trials to see if you could take part in one.

Children with Gaucher’s disease might not grow as quickly as other children. 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 might also help.

People with severe symptoms may need 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. The support of others who face the same challenges can help you feel less isolated. Sharing information and tips can help make daily life easier.

Professional counseling might also help you manage your feelings and frustrations about living with Gaucher’s disease.

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Getting Support

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.

WebMD Medical Reference Reviewed by William Blahd, MD on June 11, 2016

Sources

SOURCES:

National Institute of Neurological Disorders and Stroke: "What is Gaucher Disease?"

Genetics Home Reference: "Gaucher disease."

National Gaucher Foundation: "About Gaucher Disease."

Kliegman, R.M. Nelson Textbook of Pediatrics, 19th edition, Saunders Elsevier, 2011.

National Human Genome Research Institute: "Learning About Gaucher Disease."

Orphanet: "Gaucher disease - ophthalmoplegia - cardiovascular calcification."

Weinreb, N.J. American Journal of Hematology, December 2008.

Gauchers Association: “Living with Gaucher Disease.”

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