Gaucher disease occurs when your body doesn’t have enough of an enzyme (glucocerebrosidase). Symptoms include enlargement of the liver and spleen; easy bruising; low numbers of platelets (thrombocytopenia); and bone problems.
Symptoms vary from person to person and depend on the type of Gaucher disease you have. Some people have very mild symptoms, and others may not experience any at all.
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Gaucher disease can’t be cured, but treatments can control symptoms and help you feel better. These include replacing the missing enzyme (enzyme replacement therapy) to reduce spleen size, improve bone pain and easy bruising caused by a decrease in blood platelets (thrombocytopenia). You can also take drugs that limit production of the fatty chemicals that build up in the body.
In all types of Gaucher disease, an enzyme that breaks down fats doesn’t work correctly. As a result, the fatty chemicals build up in the liver, spleen and bone marrow. They can also collect in the lungs, where they can block blood flow and cause breathing problems. Fatigue is common, and it’s often due to anemia, which can weaken bones and lead to joint problems.
Bleeding and clotting problems are also common. Low platelet counts can cause nosebleeds, gum bleeding and easy bruising. They can also increase the risk of serious bleeding during surgery, trauma or delivering a baby.
Treatments for Type 1 Gaucher disease can help people avoid complications and live longer. They can include a combination of drugs, such as acetaminophen, ibuprofen and opioids for pain, and supplements like calcium and vitamin D. You can also take part in a clinical trial of new medicines to see whether they can prevent or lessen symptoms. If you’re interested in participating in a study, talk to your doctor.
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Gaucher disease is an inherited condition in which a person lacks an enzyme called glucocerebrosidase. This enzyme breaks down a fatty chemical (glucocerebroside) in the liver, spleen, bone tissue and marrow, and other organs. Without this enzyme, glucocerebroside builds up and prevents these organs from working properly. Gaucher disease is part of a group of disorders called lysosomal storage diseases.
The signs and symptoms of Gaucher disease vary widely from one person to another. In most cases, symptoms appear in early childhood and become more serious by the teen years. But some types of Gaucher disease, particularly type 2, begin in infancy and cause severe neurological problems, usually death by age 2.
Some people may have symptoms at any age, while others never have them. People with type 3 Gaucher disease, however, usually have symptoms by their teen years.
Treatment for Gaucher disease involves taking medicines that increase the levels of glucocerebrosidase in your bloodstream. This helps reduce enlargement of the liver and spleen and other symptoms. Your doctor may recommend other treatments, such as hepatosplenomegaly surgery and splenectomy or removal of the spleen. You can also take part in a clinical trial to try experimental drugs that might treat Gaucher disease. These studies are designed to test whether new medicines might help prevent or delay the onset of symptoms.
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If you have Gaucher disease, your platelet count may be too low to clot blood properly. That can cause easy bruising. A normal platelet count is between 50,000 and 100,000 per microliter of blood. If yours is lower, you may bruise easily, have nosebleeds, and have a harder time clotting during surgery or dental work.
A hematologist (a doctor who treats blood disorders) can test for Gaucher disease by checking your platelet level and looking at a sample of blood from a vein in your arm. He or she will also ask about your health history and symptoms, including if there is a family history of easy bruising.
The type of Gaucher disease you have depends on the kind of GBA gene change you get from your parents. Most people with type 1 Gaucher disease have a very low platelet count and experience other signs, such as enlarged liver and spleen, in early childhood or by their teen years.
Type 2 Gaucher disease can cause severe problems before birth or in infancy, such as fluid accumulation in the lungs and other organs, distinctive facial features, dry, scaly skin (ichthyosis), and hepatosplenomegaly. Some children with type 2 Gaucher disease have a fatal form of the condition called the perinatal lethal form, which causes problems such as severe swelling in the body before birth and death by age 2. Some people with type 3 Gaucher disease experience similar symptoms as those with type 2, but they usually develop them at an older age.
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Gaucher disease is an inherited condition that affects the way your body gets rid of waste materials. It happens when an enzyme that normally breaks down fats can’t do its job, so waste material builds up in the liver, spleen and bone marrow. Eventually, this can damage these organs and cause other problems. It’s one of a group of conditions called lysosomal storage diseases. Other types of lysosomal storage diseases include Pompe, Hurler and Fabry disease.
People with Gaucher disease have low platelet counts. Because of this, they bruise easily and have trouble stopping heavy or prolonged bleeding. Bone pain is also a common sign of Gaucher disease. This is because the fatty chemicals accumulate in bones and interfere with blood flow. This can lead to a condition called osteonecrosis, which is when bone tissue dies.
Type 2 Gaucher disease, the most serious form of the disease, causes many of the same symptoms as type 1 Gaucher disease, but it also has severe neurological (brain) problems. Babies with this form of the disease often don’t live past age 2.
There is no cure for Gaucher disease, but treatments can help reduce symptoms and prevent long-term damage. Medicines like acetaminophen and ibuprofen can help with pain. Taking calcium, vitamin D and other supplements can also ease pain. Some doctors also use a drug called Eliglustat (Cerdelga), which inhibits the production of fatty chemicals in your body that build up in Gaucher disease.