Gaucher disease is an inherited genetic disorder. It causes bone pain, anemia, enlarged organs, a swollen, painful belly, and bruising and bleeding problems. There are three types of the disease. Some types of Gaucher disease can lead to severe brain damage and death. But Gaucher disease type 1 (the most common in the U.S.) is treatable.
Gaucher disease (pronounced “go-shay”) is an inherited lysosomal storage disorder (LSD), a type of disease that causes fatty substances (sphingolipids) to build up in your bone marrow, liver and spleen. The sphingolipids weaken bones and enlarge your organs, so they can’t work as they should. There’s no cure for Gaucher disease, but treatments can relieve symptoms and greatly improve quality of life.
There are three types of Gaucher disease (or Gaucher’s disease). All of them cause similar symptoms in your organs and bones. Some forms of the disease also affect your brain and neurologic system.
The most common type in the U.S., Gaucher disease type 1 affects your spleen, liver, blood and bones. It doesn’t affect your brain or spinal cord. Gaucher disease type 1 is treatable, but there’s no cure. For some people, symptoms are mild. Other people experience severe bruising, fatigue and pain, especially in their bones and belly (abdomen). Symptoms can appear at any age, from early childhood to late adulthood.
A rare form of the disorder, Gaucher disease type 2 appears in babies younger than 6 months old. It causes an enlarged spleen, movement problems and severe brain damage. There’s no treatment for Gaucher disease type 2. Babies with this condition usually pass away within two to three years.
Worldwide, Gaucher disease type 3 is the most common form, but it’s rare in the U.S. It appears before age 10 and causes bone and organ abnormalities and neurological (brain) problems. Treatments can help many people with Gaucher disease type 3 live into their 20s or 30s.
Gaucher disease is rare. About 6,000 people in the U.S. have the disorder. About 95% of people with Gaucher disease in the U.S. have type 1.
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Gaucher disease is an inherited metabolic disorder. A genetic change (mutation) in the GBA gene causes the disease. The GBA gene is responsible for making an enzyme called glucocerebrosidase (GCase). People with Gaucher disease don’t have enough of this enzyme. Enzymes like GCase are proteins that perform several tasks, including breaking down fats (sphingolipids) in your body.
If your body doesn’t have enough of these enzymes, fatty chemicals (called Gaucher cells) build up in your organs, bone marrow and brain. The excess fats cause a wide range of problems and symptoms. They affect how your organs work, and they destroy blood cells and weaken bones.
Gaucher disease symptoms vary from person to person. Some people with Gaucher disease have mild symptoms or none at all. In other people, symptoms can lead to serious health problems and death.
As fatty chemicals build up in your body, you may experience a range of symptoms in your blood and organs. Sometimes your skin develops brown, pigmented spots. Symptoms range from mild to severe and include:
Your bones get weak and break down when they don’t get enough blood, oxygen and nutrients. People with Gaucher disease may have symptoms in their bones and joints, including:
In addition to blood, organ and bone symptoms, Gaucher disease types 2 and 3 also cause neurological (brain) problems. Infants with Gaucher disease type 2 develop these symptoms within the first six months of life. They may have skin abnormalities at birth. Symptoms of Gaucher disease type 3 appear by age 10 and become more severe over time.
Neurological symptoms of Gaucher disease types 2 and 3 include:
Anyone can have the disorder, but people with Ashkenazi Jewish ancestry are more likely to have Gaucher disease type 1. Of all people of Ashkenazi (or Ashkenazic) Jewish descent, nearly 1 in 450 has the disorder, and 1 in 10 carries the gene change that causes Gaucher disease.
Ancestry doesn’t play a role in who gets Gaucher disease types 2 and 3. The disorder affects people of all ethnicities.
To diagnose Gaucher disease, your healthcare provider will examine you and ask about your symptoms. Providers diagnose Gaucher disease using a blood test that checks for enzyme levels or a DNA test to see if the gene mutations causing Gaucher disease are present.
To determine if you’re a carrier for Gaucher disease, your provider will perform a DNA test using your saliva or blood. Gaucher disease carriers don’t have any symptoms, but they can pass the disease to their children. If you’re a carrier and considering having children, your provider will refer you to a genetic counselor so you can decide on a plan for your family.
With regular therapy, Gaucher disease type 1 is treatable. Gaucher disease treatment either increases enzyme levels or decreases the fatty substance that builds up in your body. There’s no treatment for the neurological damage from Gaucher disease types 2 and 3.
Treatment for Gaucher disease type 1 includes:
People with Gaucher disease need ERT regularly (every two weeks) for treatment to be effective. Your healthcare provider will give you an enzyme infusion intravenously (through a vein in your arm).
You may receive infusions at an infusion center, or (if you’re tolerating the infusions well) they can be given in your home. During ERT, the enzyme is delivered directly into your bloodstream from where it can reach your organs and bones. Then it breaks down fatty chemicals so they can’t build up.
This treatment decreases fatty chemicals so they can’t build up in your body. You take SRT medication orally (by mouth). You must continue taking the medication regularly to prevent damage to your body.
Researchers are actively developing several new therapies using genetic engineering and stem cell technologies.
There’s no way to prevent Gaucher disease if you have the genetic mutation. It’s wise to have testing if you’re at risk. Early treatment may prevent damage to bones and organs from Gaucher disease type 1.
If a DNA test shows that you’re a Gaucher carrier, and you’re planning on starting a family, talk to your healthcare provider. A genetic counselor can give you more information and help you make a plan to decrease the chance of passing on the gene.
With treatment, people with Gaucher disease type 1 can manage the disorder and lead full lives. It’s essential to work with a specialist and continue long-term treatments. Without treatment, Gaucher disease can cause permanent damage.
Treatments can help people with Gaucher disease type 3 live to their 20s or 30s. But the treatment for Gaucher disease type 3 only addresses problems affecting the blood, organs and bones. It doesn’t improve brain function or reverse neurological damage. Due to severe brain damage, babies with Gaucher disease type 2 pass away within the first three years.
If you or your child has symptoms of Gaucher disease, see your healthcare provider. You and your children should get tested if you have a family history of the disease or if you have a child who has tested positive for Gaucher disease. Because the disorder runs in families, you should notify your siblings and other family members if you or your child is diagnosed with Gaucher disease.
If you’re of Ashkenazi Jewish descent and considering having children, talk to your provider. A DNA test can determine if you’re a carrier for Gaucher disease. This information will help you plan a family and ensure that your child gets prompt treatment if they have the disease.
A note from Cleveland Clinic
A diagnosis of Gaucher disease can be overwhelming. You may worry about your child’s future or what this means for your well-being, but effective treatments — and promising research — offer hope. By sticking to a treatment plan and working closely with your healthcare provider, you can relieve symptoms and prevent long-term damage. Talk to your provider about how to manage the disease and monitor your health.
Last reviewed by a Cleveland Clinic medical professional on 08/21/2023.
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