Know the basics
What is Gaucher’s disease?
Gaucher’s disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to become much larger than normal and can affect their function. The fatty substances associated with Gaucher’s disease also can build up in bone tissue. This weakens the bone and increases the risk of fractures. If the bone marrow is affected, it can interfere with your blood’s ability to clot.
There are three types:
- Type 1, the most common form, causes liver and spleen enlargement, bone pain and broken bones, and, sometimes, lung and kidney problems. It does not affect the brain. It can occur at any age.
- Type 2, which causes severe brain damage, appears in infants. Most children who have it die by age 2.
- In type 3, there may be liver and spleen enlargement. The brain is gradually affected. It usually starts in childhood or adolescence.
Gaucher’s disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of types 2 and 3.
How common is Gaucher’s disease?
Gaucher’s disease can affect patients at any age. It can be managed by reducing your risk factors. Please discuss with your doctor for further information.
What are the symptoms of Gaucher’s disease?
Signs and symptoms of Gaucher’s disease can vary widely. Siblings, even identical twins, with the disease may have different levels of severity. Some people who have Gaucher’s disease have no symptoms at all.
Most people who have Gaucher’s disease experience varying degrees of the following problems:
- Abdominal complaints. Because the liver and especially the spleen can enlarge dramatically, the abdomen can become painfully distended.
- Skeletal abnormalities. Gaucher’s disease can weaken bone, increasing the risk of painful fractures. It can also interfere with the blood supply to your bones, which can cause portions of the bone to die.
- Blood disorders. A decrease in healthy red blood cells (anemia) can result in severe fatigue. Gaucher’s disease also affects the cells responsible for clotting, which can cause easy bruising and nosebleeds.
More rarely, Gaucher’s disease can affect the brain, which may cause abnormal eye movements, muscle rigidity, swallowing difficulties and seizures. One rare subtype of Gaucher’s disease begins in infancy and typically results in death by the age of 2.
There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.
When should I see my doctor?
If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.
What causes Gaucher’s disease?
A deficiency of the enzyme glucocerebrosidase causes Gaucher’s. This enzyme is responsible for breaking down fatty substances in your body. When you don’t make enough glucocerebrosidase, your body doesn’t break down lipids properly. As a result, the lipids accumulate around your organs.
Glucocerebrosidase deficiency is a genetic condition. The gene is recessive, so both of your parents need to carry the gene for you to develop Gaucher’s disease. If both of your parents are carriers of the gene but they don’t have the disease themselves, you only have a 25 percent chance of inheriting two copies of it.
You have a 50 percent chance of inheriting one copy of the gene, in which case you probably won’t develop symptoms. You have a 25 percent chance of inheriting no copies of the gene and not being a carrier yourself.
What increases my risk for Gaucher’s disease?
People of Eastern or Central European Jewish (Ashkenazi) ancestry are at higher risk of developing the most common variety of Gaucher’s disease.
Diagnosis & treatment
The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.
How is Gaucher’s disease diagnosed?
During a physical exam, your doctor will press on you or your child’s abdomen to check the size of the spleen and liver. He or she might also recommend certain lab tests, imaging scans and genetic counseling.
Lab tests: Blood samples can be checked for levels of the enzyme associated with Gaucher’s disease. Genetic analysis can also reveal whether you have the disease.
Imaging tests: People diagnosed with Gaucher’s disease typically require periodic tests to track its progression. These may include imaging tests such as:
- Dual energy X-ray absorptiometry (DXA). This test uses low-level X-rays to measure bone density.
- Magnetic resonance imaging (MRI). Using radio waves and a strong magnetic field, an MRI can show whether the spleen or liver is enlarged, and if bone marrow has been affected.
Preconception screening and prenatal testing: You may want to consider genetic screening prior to starting a family if you or your partner is of Ashkenazi Jewish heritage or if either of you have a family history of Gaucher’s disease. In some cases, doctors may recommend prenatal testing to see if the fetus is at risk of Gaucher’s disease.
How is Gaucher’s disease treated?
While there’s no cure for Gaucher’s disease, a variety of treatments can help control symptoms, prevent irreversible damage and improve quality of life. Some people have such mild symptoms that they may not need treatment.
Many people who have Gaucher’s disease have seen improvements in their symptoms after beginning treatment with drugs that:
- Replace enzymes. This approach replaces the deficient enzyme with artificial enzymes. These replacement enzymes are administered in an outpatient procedure through a vein (intravenously), typically in high doses at two-week intervals. Occasionally people experience an allergic or hypersensitivity reaction to enzyme treatment.
- Inhibit production of the problem substances. Oral medications, such as miglustat (Zavesca) and eliglustat (Cerdelga), appear to interfere with the production of the fatty substances that build up in people with Gaucher’s disease. Nausea and diarrhea are common side effects.
- Treat osteoporosis. These types of medications can help rebuild bone weakened by Gaucher’s disease.
If your symptoms are severe and you’re not a candidate for less invasive treatments, your doctor might suggest:
- Bone marrow transplantation. In this procedure, blood-forming cells that have been damaged by Gaucher’s are removed and replaced, which can reverse many of Gaucher’s signs and symptoms. Because this is a high-risk approach, it’s performed less often than is enzyme replacement therapy.
- Spleen removal. Before enzyme replacement therapy became available, removing the spleen was a common treatment for Gaucher’s disease. Currently, this procedure is typically reserved as a last resort
Lifestyle changes & Home remedies
What are some lifestyle changes or home remedies that can help me manage Gaucher’s disease?
There’s a lot you can do besides taking medicine to help manage the challenges of Gaucher’s disease. Healthy eating, exercise, cutting stress, and other lifestyle changes can help you live better.
Keep in mind that Gaucher’s is different for everyone. Some people have mild symptoms. Others have serious health problems
No matter how you or your child is affected by the disease, reach out to a network of family and friends to get the emotional backing you need. They can give you the support that’s so important in helping you face the health issues that Gaucher’s sends your way.
Also try to learn as much as you can about the condition. The more you know, the less scary it will seem. Read all you can about Gaucher’s. Ask your doctor lots of questions. And check out some of these steps that can help you or your child stay healthy and feel better.
Manage pain and fatigue: Gaucher’s can cause your bones to hurt. The pain, called bone crises, can be intense enough to keep you up at night. Tell your doctor about how you feel so you can get relief. Gaucher’s treatments like enzyme replacement therapy (ERT) should help. You or your child can also take pain relievers. Adjust your activity level and take it easy when you hurt.
Another common complaint from Gaucher’s is fatigue. Anemia – a lack of enough red blood cells – can make you feel tired. To help manage this problem:
- Plan rest breaks or naps during the day
- Break up big tasks into smaller ones
- Get help with chores or work
- Go to bed earlier
- Keep exercising
If your pain and fatigue make it harder for you to walk or climb stairs, go to a physical therapist. He can teach you exercises that help you move around more easily. If you’re unsteady on your feet, talk to your doctor about using crutches, a cane, or a walker to help avoid falls.
Get exercise: Even though you may not feel like moving around when you’re tired, your body needs exercise to stay healthy.
If you have any questions, please consult with your doctor to better understand the best solution for you.
Hello Health Group does not provide medical advice, diagnosis or treatment.
Review Date: February 11, 2017 | Last Modified: September 12, 2019
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Gaucher's disease. http://www.mayoclinic.org/diseases-conditions/gauchers-disease/basics/definition/con-20031396. Accessed February 10, 2017.
Gaucher's Disease. http://www.webmd.com/children/gauchers-disease-symptoms-causes-treatments#1. Accessed February 10, 2017.