Gaucher Disease
What is Gaucher disease?
Gaucher disease is a rare genetic disorder passed down from parents to children (inherited). When you have Gaucher disease, you don't make enough of the enzyme (glucocerebrosidase) that breaks down certain types of fatty substances (lipids). Or you have enzymes that don't work correctly. These lipids can build up in harmful quantities in organs. The organs include your spleen, bone marrow, and liver.
This condition can cause many different symptoms. Your spleen and liver may get very large and stop working normally. The disease can also affect your lungs, brain, eyes, and bones.
There are 3 types of Gaucher disease:
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Type 1. The most common type, affecting about 9 in 10 people with Gaucher disease. If you have type 1, you often don't have enough platelets in your blood. This can make you bruise easily and feel very tired (fatigued). Your symptoms can begin at any age. You might have an enlarged liver or spleen. You may also have kidney, lung, or skeletal problems. This type does not affect the nervous system.
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Type 2. This form of the disease affects babies by age 3 to 6 months. It is fatal. In most cases, children don't live beyond 2 years old. This type involves the nervous system.
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Type 3. Symptoms include skeletal problems, eye movement disorders, seizures that become more obvious over time, blood disorders, breathing problems, and liver and spleen enlargement.
What causes Gaucher disease?
Gaucher disease is passed down from parents to children (inherited). It is caused by changes (mutations)with the GBA gene.
It is an autosomal recessive disorder. This means that each parent must pass along a nonworking copy of the GBA gene for their child to get Gaucher. Parents may not show any signs of the disease.
What are the symptoms of Gaucher disease?
Each person's symptoms may vary. For many people, symptoms begin in childhood. Some people have very mild symptoms.
Symptoms of Gaucher disease can include:
How is Gaucher disease diagnosed?
To make a diagnosis, your healthcare provider will do a physical exam and assess your overall health and health history.
Your provider will also look at:
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Your description of symptoms
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Your family medical history
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Special blood testing results
Because Gaucher disease has so many different symptoms, your provider will need to rule out other diseases.
How is Gaucher disease treated?
There is no cure for Gaucher disease. But certain treatments may help you control your symptoms.
Your treatment will depend on what type of Gaucher disease you have. Treatment may include:
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Enzyme replacement therapy (ERT).This works for types 1 and 3. This treatment involves IV (intravenous) infusion therapy every 2 weeks. This treatment breaks down excess glucocerebroside buildup.
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Substrate reduction therapy. These medicines work differently than ERT, and are only approved for certain people. These oral medicines decrease the glucocerebroside the body makes. This reduces excess buildup.
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Medicines to treat your specific symptoms
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Regular physical exams and bone density screening to check your disease
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Bone marrow transplant
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Surgery to remove your spleen
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Joint replacement surgery
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Blood transfusions
What are possible complications of Gaucher disease?
Gaucher disease can cause other health problems, such as:
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Delayed growth
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Delayed puberty
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Weak bones
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Bone pain
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Brain damage
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Joint pain
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Trouble walking or getting around
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Not having enough healthy red blood cells (anemia)
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Extreme tiredness (fatigue)
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Increased risk of developing Parkinson disease
What can I do to prevent Gaucher disease?
If Gaucher disease runs in your family, talk with a genetic counselor. They can help you find out your risk of having the disease. You may also learn your chances of passing on the disease to your children.
Testing the brother or sister of someone with Gaucher disease may help find the disease early. This can help with treatment.
When should I call my healthcare provider?
Call your healthcare provider if any of the following occur:
Call your provider if you have new symptoms, such as joint pain or seizures. Also let your provider know if your treatment is no longer helping to control your original symptoms.
Living with Gaucher disease
Follow your healthcare provider's advice for taking care of yourself. Take your medicines as directed. Go to all of your follow-up medical visits.
Key points
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It is a disorder passed from parents to children (inherited).
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It causes fatty substances called lipids to build up in organs, such as the spleen and liver.
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Organs can become very large and not work well. It can also affect the lungs, brain, eyes, and bones.
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Many different symptoms are related to this disease, but physical exam, symptoms, and special blood testing will confirm the diagnosis.
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There is no cure, but specific treatments may help to control symptoms.
Next steps
Tips to help you get the most from a visit to your healthcare provider:
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Know the reason for your visit and what you want to happen.
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Before your visit, write down questions you want answered.
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Bring someone with you to help you ask questions and remember what your provider tells you.
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At the visit, write down the name of a new diagnosis and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you.
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Know why a new medicine or treatment is prescribed and how it will help you. Also know what the side effects are.
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Ask if your condition can be treated in other ways.
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Know why a test or procedure is recommended and what the results could mean.
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Know what to expect if you do not take the medicine or have the test or procedure.
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If you have a follow-up appointment, write down the date, time, and purpose for that visit.
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Know how you can contact your provider if you have questions.