What is Gaucher disease?
Gaucher disease is an inherited condition (passed down through families). It is a lysosomal storage disorder, a type of disease that causes fatty substances to build up in the bone marrow, liver and spleen. The fatty substances (sphingolipids) weaken bones and enlarge the organs, so they can’t work like they should. There is no cure for Gaucher disease, but treatments can relieve symptoms and greatly improve quality of life.
What are the types of Gaucher disease?
There are three types of Gaucher disease (pronounced go-shay). All cause similar symptoms in the organs and bones. Some forms of the disease also affect the brain. The types of Gaucher disease are:
- Gaucher disease type 1: The most common type in the U.S., Gaucher disease type 1 affects the spleen, liver, blood and bones. It does not affect the brain or spinal cord. Gaucher disease type 1 is treatable, but there is no cure. For some people, symptoms are mild. Other people experience severe bruising, fatigue and pain, especially in the bones and belly. Symptoms can appear at any age, from childhood to adulthood.
- Gaucher disease type 2: A rare form of the disorder, type 2 appears in babies under six months old. It causes an enlarged spleen, movement problems and severe brain damage. There is no treatment for Gaucher disease type 2. Babies with this condition pass away within two to three years.
- Gaucher disease type 3: Worldwide, Gaucher disease type 3 is the most common form, but it’s rare in the United States. 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.
How common is Gaucher disease?
Gaucher disease is rare. About 6,000 people in the United States have the disorder. Gaucher disease type 1 is the most common form in the United States. Around 95% of people with Gaucher disease in the U.S. have type 1.
Who is likely to get Gaucher disease?
Anyone can have the disorder, but people with Ashkenazi Jewish (Eastern European) 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 does not play a role in who gets Gaucher disease types 2 and 3. The disorder affects people of all ethnicities.
Symptoms and Causes
What causes Gaucher disease?
Gaucher disease is an inherited metabolic disorder. It’s passed down through families. People with Gaucher disease don’t have enough of an enzyme called glucocerebrosidase (GCase). Enzymes like GCase are proteins that perform several tasks, including breaking down fats (sphingolipids) in the body.
If the body doesn’t have enough of these enzymes, fatty chemicals (called Gaucher cells) build up in the organs, bone marrow and brain. The excess fats cause a wide range of problems and symptoms. They affect how the organs work, and they destroy blood cells and weaken bones.
What are the symptoms of Gaucher disease?
Symptoms of Gaucher disease 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. Signs of all three forms of Gaucher disease include:
Problems affecting the organs and blood: As fatty chemicals build up in the body, people with Gaucher disease may experience a range of symptoms in the blood and organs. Sometimes the skin develops brown pigmented spots. Symptoms range from mild to severe and include:
- Anemia: As lipids build up in bone marrow, they destroy red blood cells. Red blood cells carry oxygen throughout the body. Having too few red blood cells is called anemia.
- Enlarged organs: The spleen and liver get bigger as fatty chemicals build up, which causes the belly to become enlarged and tender. The enlarged spleen destroys platelets (blood cells that help blood clot), leading to a low platelet count and bleeding problems.
- Bruising, bleeding and clotting issues: A low platelet count causes people with Gaucher disease to bruise easily. Their blood doesn’t clot like it should. They are at risk of heavy or prolonged bleeding, even after minor injuries, surgery or nosebleeds.
- Fatigue: As a result of anemia, people with Gaucher disease often experience fatigue (feeling tired all the time).
- Lung problems: Fatty chemicals accumulate in the lungs and make it difficult to breathe.
Problems affecting the bones: When bones don’t get the blood, oxygen and nutrients they need, they weaken and break down. People with Gaucher disease may have symptoms in the bones and joints, including:
- Pain: Decreased blood flow causes pain in the bones. Arthritis, joint pain and joint damage are common signs of Gaucher disease.
- Osteonecrosis: This condition, also known as avascular necrosis, results from a lack of oxygen reaching the bones. Without enough oxygen, bone tissue fractures into tiny pieces and dies.
- Bones that fracture easily: Gaucher disease causes osteoporosis, a condition that occurs when the bones don’t get enough calcium. With osteoporosis (and osteopenia, a mild form of osteoporosis), bones can break easily. Weakened bones can lead to skeletal abnormalities.
Problems affecting the brain and brain stem: 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:
- Feeding challenges and developmental delays (in babies with Gaucher disease type 2).
- Cognitive difficulties.
- Eye problems, specifically when moving the eyes side to side.
- Problems with gross motor skills and coordination.
- Seizures, muscle spasms and quick, jerky movements.
Diagnosis and Tests
How is Gaucher disease diagnosed?
Your provider will examine you (or your child) and ask about your symptoms. Healthcare providers diagnose Gaucher disease using a blood test that checks for enzyme levels.
To determine if you’re a carrier for Gaucher disease, your provider does 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.
Management and Treatment
Can Gaucher disease be treated?
With regular therapy, Gaucher disease type 1 is treatable. Treatments either increase enzyme levels or decrease the fatty substance that builds up in the body in Gaucher disease. There is no treatment for the neurological damage from Gaucher disease types 2 and 3. Treatment for Gaucher disease type 1 includes:
Enzyme replacement therapy (ERT): People with Gaucher disease need ERT regularly (every two weeks) for treatment to be effective. Your provider gives you an enzyme infusion intravenously (through a vein in your arm).
You may receive infusions at an infusion center, or (if you are 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 to break down fatty chemicals so they can’t build up.
Substrate reduction therapy (SRT): 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. Ask your provider if SRT is right for you.
Researchers are actively developing several new therapies using genetic engineering and stem cell technologies.
Can I prevent Gaucher disease?
There is no way to prevent Gaucher disease if you have the gene mutations. It’s wise to have testing if you are 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 provider. A genetic counselor can give you more information and help you make a plan to decrease the chance of passing on the gene.
Outlook / Prognosis
What is the outlook for people who have Gaucher disease?
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 does not 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.
When should I see my healthcare provider about Gaucher disease?
If you or your child have symptoms of Gaucher disease, see your provider. You and your children should get tested if you have a family history of the disease or 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 are diagnosed with Gaucher disease.
If you are 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 he or she has the disease.
A note from Cleveland Clinic
A Gaucher disease diagnosis 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 provider, you can relieve symptoms and prevent long-term damage. Talk to your provider about how to manage the disease and monitor your health.
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