General Condition Information
What is Gaucher disease
Gaucher disease is an inherited (genetic) condition that prevents the body from processing glucocerebroside properly. Gaucher disease is named for one of the first doctors to describe the condition.
Glucocerebroside maintains the shape of cells and supports several other important cell processes. The enzyme beta-glucocerebrosidase (GBA) breaks down glucocerebroside. This process takes place in lysosomes, the recycling compartments in your cells.
Gaucher disease develops when the GBA enzyme is present at low levels or does not work correctly. This makes it harder for lysosomes to break down glucocerebroside. The build-up of glucocerebroside affects the function of cells in the body’s organs, especially in the liver, spleen, bone marrow, and nervous system.
There are three types of Gaucher disease that differ in signs and symptoms and age of onset.
- Type 1 is the most common type. This type as also known as non-neuronopathic Gaucher disease because the brain and spinal cord are usually not affected.
- Types 2 and 3 are very rare. They are known as neuronopathic Gaucher disease because these types do affect the brain and spinal cord.
There is a wide range of severity between and within types of Gaucher disease. It is not fully understood what causes the difference between types of Gaucher disease.
Without treatment, high levels of glucocerebroside can damage the liver, spleen, bones, brain, spinal cord, and heart. This damage leads to the signs and symptoms of the condition.
Newborn Screening and Follow-Up
Newborn screening for Gaucher disease requires collecting a small amount of blood from your baby’s heel. To learn more about this process, visit the Blood Spot Screening page.
Screening measures how much of the GBA enzyme is in your baby’s blood. Babies with a low level of this enzyme might have Gaucher disease.
If your baby’s blood spot screening result for Gaucher disease is out-of-range, your baby’s health care provider will contact you. Together, you will discuss next steps and follow-up plans.
An out-of-range screening result does not mean that your baby definitely has the condition. It does mean that your baby needs more follow-up testing. To learn more about screening results, visit the Blood Spot Screening Results page.
Your baby may need the following tests after an out-of-range screening result:
- Blood or urine tests
- DNA testing using a blood or cheek swab sample
You should complete any recommended follow-up testing as soon as possible. Infants with this condition can have serious health problems if they are not diagnosed and treated quickly.
False-positive newborn screening results for this condition can happen.
Newborn screening helps babies lead healthier lives. If your baby has an out-of-range result, follow up with your health care provider quickly. It is important to follow their instructions. Your baby may need to get treatment right away, even if they are not showing signs or symptoms. In some cases, your baby’s health care provider may decide it is best to watch (monitor) your baby to decide next steps. Careful monitoring and early treatment will help your baby stay as healthy as possible.
Signs of Gaucher disease may appear anywhere from birth to adulthood, depending on the type and severity of Gaucher disease a baby has.
Early signs of the condition may include the following:
Gaucher disease is caused by a change in the GBA gene. This gene gives instructions for making the GBA enzyme that breaks down glucocerebroside.
A changed GBA gene prevents the cells from breaking down glucocerebroside properly. Glucocerebroside then builds up in lysosomes. When lysosomes get too full, cells do not function properly. In Gaucher disease, the cells of the liver, spleen, bone marrow, and nerves are most affected.
- Gaucher disease is an autosomal recessive condition. Babies inherit the condition when each parent passes down a nonworking GBA gene to their baby. Only babies with two nonworking GBA genes—one from the mom and one from the dad—have this condition.
- People with one working copy and one nonworking copy of the GBA gene are called carriers.
- Carriers do not have or develop the condition. However, they may pass down a nonworking copy of the gene to their children.
- If two parents are carriers of a nonworking copy of the GBA gene, they have a 1 in 4 chance of having a child with Gaucher disease.
- Carriers for Gaucher disease often do not know they are carriers before having a child with the condition. In most cases, families have no history of the condition until the birth of a child with Gaucher disease.
- Parents who already have a child with Gaucher disease still have a 1 in 4 chance of having another child with Gaucher disease. This 1 in 4 chance stays the same for all future children.
- Genetic counselors and medical geneticists can help families learn about this condition and the chance of having children with it. Visit the National Society of Genetic Counselors to find a genetic counselor and the American College of Medical Genetics and Genomics to find a medical geneticist.
Treatment and Management
It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition.
Treatments may include the following:
- Enzyme replacement therapy (ERT)
- Medications to help prevent blood clots (anticoagulants)
- Pain medicines
- Medicines to reduce glucocerebroside (substrate reduction therapy)
Children who receive early and ongoing treatment for Gaucher disease can live longer and have better growth.