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When faced with a serious diagnosis like Gaucher disease, you are bound to have questions.
What's in this Guide?
- What Is Gaucher Disease?
- Causes of Gaucher Disease
- Who Gets Gaucher Disease?
- Signs & Symptoms of Gaucher Disease
- Diagnosis of Gaucher Disease
- Genetic Testing for Gaucher Disease
- What Is the Risk of Passing the Condition on to my Children?
- Treatments and Care Options for Gaucher Disease
- Complications Associated With Gaucher Disease
- The Prognosis of Gaucher Disease
- What to Do Next: Living With Gaucher Disease
Disclaimer: Before You Read
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The information is presented in easy-to-understand terms so you can read with confidence and less confusion.
What Is Gaucher Disease?
Gaucher disease is a rare lipid metabolism disorder that’s inherited. It’s one of about 50 lysosomal storage diseases, which are disorders that result from defective lysosomal function.
People who have Gaucher disease don’t produce enough of the enzyme glucocerebrosidase.
When there isn’t enough glucocerebrosidase, fatty substances aren’t broken down and can build up in the bones, bone marrow, lungs, spleen, liver and sometimes the brain.
Gaucher's disease and Niemann-Pick disease are often mistaken for one another because they are both enzyme deficiency diseases and the symptoms can be very similar.
It’s also sometimes confused with genetic brain disorders because of the brain damage that can occur.
Types of Gaucher Disease
There are three types of Gaucher disease 1:
Type I - Also known as non-neuronopathic Gaucher disease. This is the most common type and considered the most manageable because it doesn’t affect the brain. Type I Gaucher disease can, however, impact the bones and organs like the spleen, liver, kidneys and lungs.
Type II - Type II Gaucher disease is the most severe form. It develops in infancy and causes brain damage.
Type III - The third type of Gaucher disease forms in childhood or adolescence 2. It causes spleen and liver enlargement and gradually affects the brain.
There are also two forms of the disease: perinatal lethal form that occurs in utero and cardiovascular form that primarily affects the heart valves.
Causes of Gaucher Disease
Gaucher disease is an inherited disease. It occurs due to a defective GBA gene. This gene is responsible for the production and function of beta-glucocerebrosidase, an enzyme that breaks down a fatty substance known as glucocerebroside.
The fatty substance builds up to a toxic level and damages organs as well as tissue.
Those with the disease have the presence of Gaucher cells in the monocyte-macrophage system, but the cells don’t cause the condition. They are the result of excessive glucocerebroside.
The Genetic Pattern of Inheritance of Gaucher Disease
Gaucher disease is an inherited condition with an autosomal recessive pattern.
This means both copies of the GBA gene have to have the mutation in order for Gaucher disease to develop.
Each parent would have a single copy of the mutated gene that’s passed along to their children, but they would have no symptoms of the condition.
Who Gets Gaucher Disease?
Gaucher’s disease statistics show that very few people are diagnosed each year. How common is Gaucher disease? Data shows only 1 in 50,000-100,000 people has some form of Gaucher disease. Type I is the most common variation.
Risk Factors for Gaucher Disease
A family history of Gaucher disease is a substantial risk factor, however, many people with the disease have completely healthy children.
Type I Gaucher disease probability is significantly higher in people of Ashkenazi (Eastern and Central Europe) Jewish descent.
As many as 1 in 500-1,000 Ashkenazi Jews have Type I Gaucher disease. Gaucher disease prevalence among this population is not higher for Type II and Type III than other groups.
Signs & Symptoms of Gaucher Disease
Like all diseases, Gaucher disease has signs and symptoms that suggest it’s present. The most common symptoms of Gaucher disease include 3:
- Bone thinning (osteopenia)
- Bone pain
- Bone fractures
- Enlarged liver (hepatomegaly)
- Enlarged spleen (splenomegaly)
- Low red blood cell count (anemia)
- Low blood platelet count (thrombocytopenia)
- Easy bruising
- Distended abdomen
The symptoms and severity are dependent on the type of Gaucher disease a person has and how long they’ve had it. Even identical twins with the disease can have different symptoms.
How Gaucher Disease Affects the Body
As you can see above, many parts of the body can be affected by Gaucher disease.
In mild cases, a person may not experience much of an effect to the point they don’t realize they have the disease. Most often bone pain and fatigue are the most obvious effects.
Although Gaucher disease is inherited, it shouldn’t cause fertility issues. However, pregnancy can be more physically difficult for women who have the disease.
Women with Gaucher’s should discuss the matter with their healthcare team before getting pregnant in order to curtail possible problems, particularly bone pain.
Often vitamins are needed to provide additional nutrients during pregnancy.
Diagnosis of Gaucher Disease
Diagnosis of Gaucher disease can happen at just about any point in life depending on the type or form of the disease.
If a person notices the symptoms or is concerned Gaucher disease is a possibility they should schedule an exam with a physician to run a few tests.
A physical exam can suggest that Gaucher disease is present. The doctor can press on the stomach to determine if the spleen and/or liver are enlarged.
Children’s growth is also compared to averages since the disease can delay growth.
It’s possible to do bloodwork to analyze levels of the glucocerebrosidase enzyme. It’s called the beta-glucosidase leukocyte (bgl) test and is the standard for diagnosing Gaucher disease.
Gaucher disease radiology tests include MRIs and dual-energy X-ray absorptiometry (DXA). The latter can measure bone density.
MRIs can tell you if the spleen or liver are enlarged and if there are bone marrow anomalies.
While the beta-glucosidase leukocyte test is done to determine if Gaucher disease is present, the imaging tests are more for determining how the disease is affecting the body.
Genetic Testing for Gaucher Disease
Today, genetic testing is possible to detect Gaucher disease or the presence of a single mutated GBA gene.
If you have a family history of Gaucher disease or are of Ashkenazi Jewish descent, you may want to consider having the genetic test.
Are There Prenatal Tests for Gaucher Disease?
Every fetus has a 3-5% chance of having a birth defect of some sort. Today, there are many prenatal tests that can be done to screen for a wide range of birth defects, including Gaucher disease.
When it’s diagnosed before birth it’s known as perinatal lethal form. Newborns who are born with perinatal lethal form have distinctive features, swelling and skin abnormalities. They rarely live longer than a few days.
Carrier Screening for Gaucher Disease
Tests for Gaucher disease carrier screening are available 4. The tests require either a blood or saliva sample to analyze DNA. There are over 400 genetic mutations that can contribute to Gaucher disease.
Some resources for finding out if you are a Gaucher disease carrier include:
- Center for Jewish Genetics
- National Society of Genetic Counselors
- Jewish Genetic Disease Consortium
What Is the Risk of Passing the Condition on to my Children?
The risk of passing the condition on to a child is low, even if a person has Gaucher disease.
This is because both parents must have at least one copy of the mutated gene and the child would need to inherit it on both sides to have a pair of mutated GBA genes, which leads to the disease.
If you are concerned you have a higher risk of passing Gaucher disease on to a child, both parents should be screened and attend genetic counseling.
Treatments and Care Options for Gaucher Disease
Getting a Gaucher disease diagnosis can be unnerving. Patients feel a little better knowing that there are treatment options to help ease symptoms, prevent damage and improve quality of life.
For patients with Type I and Type III Gaucher disease, the recommended treatment is often enzyme replacement therapy (ERT) 5 to help boost glucocerebrosidase levels.
ERT has been highly successful since 1991, but it’s never been effective at treating the brain damage that occurs with Type II because the enzymes can’t cross the blood-brain barrier.
ERT has been shown to:
- Reduce of hepatosplenomegaly
- Improve damaged bones
- Reverse anemia
- Reverse thrombocytopenia
ERT is a very safe treatment that can be continued even during pregnancy.
Miglustat (Zavesca) is a medication that is taken to help combat the buildup of fatty substances. The medication is taken orally and can cause weight loss and/or diarrhea.
A number of other medications or therapies may be needed to treat the side effects of Gaucher disease, such as medications to prevent osteoporosis.
Surgery for Gaucher Disease
In severe cases, surgery may be needed to treat Gaucher disease. Two surgeries that are commonly performed are spleen removal and bone marrow transplants.
Natural Treatment for Gaucher Disease
While there is no natural treatment for increasing glucocerebrosidase, there are treatments that can help ease side effects and prevent damage. For instance, eating a healthy diet and taking vitamins can help improve bone health.
Gaucher Disease Treatment Guidelines
No matter how mild or severe symptoms are currently, your doctor will want to monitor the situation to look for changes in symptoms and general health. The treatment plan will be adjusted over time to address any changes.
Gaucher Disease Treatment Cost
The cost of treatment depends on the therapies that are needed and an individual’s healthcare coverage.
Is There a Cure for Gaucher disease?
At this time there is no cure for Gaucher disease.
Complications Associated With Gaucher Disease
A number of other health conditions can develop as a result of having Gaucher disease. The organs that are impacted are often stretched and don’t function as well as they normally would.
Some complications that are commonly associated with Gaucher disease include:
Fractures - Gaucher disease bone marrow problems can cause an increased likelihood of fractures. This is partly due to reduced blood supply to bones, which can cause portions of the bone to die.
Osteoporosis - Bone loss is another skeletal complication related to Gaucher disease.
Anemia - Anemia is when a person has a low number of red blood cells. This can cause extreme fatigue. There is a higher possibility of anemia developing during pregnancy in women with Gaucher disease.
Lung Disease - Lung disease occurs with all three types of Gaucher disease.
Thrombocytopenia - With this condition a person has a low blood platelet count, which can impair clotting, cause excessive bruising and nosebleeds.
Another complication for children that develop Gaucher disease early in life is delayed growth and delayed onset of puberty.
Like the symptoms, the complications of Gaucher disease vary from patient to patient and are dependent on the type.
People with Type II and Type III Gaucher disease usually experience neurological problems. In addition to brain damage, seizures and abnormal eye movements are possible.
The Prognosis of Gaucher Disease
The prognosis of Gaucher disease varies depending on the type a person has, the severity of the symptoms and when diagnosis occurs.
Some people live for decades with very little change in their quality of life while others have a very short lifespan.
Gaucher's Disease Life Expectancy
Those who are diagnosed with Gaucher’s disease Types I and II can live a long life. However, life expectancy is very short with Type II Gaucher disease. Children with Type II Gaucher disease aren’t expected to live past the age of two.
The symptoms of Type I Gaucher disease can occur at any point in life, which means a person could already be well into adulthood when they find out they have the disease.
Type III Gaucher disease life expectancy depends on how much the brain is impacted and when symptoms develop. Some people don’t develop Type III Gaucher disease until adolescence.
Ultimately, life expectancy is often connected to brain involvement. Effects on the brain can cause the most severe complications and treatment for these effects are limited.
What to Do Next: Living With Gaucher Disease
What is everyday life like with Gaucher disease? Quality of life varies from one patient to the next and is dependent on treatment and type.
Some people live ordinary lives with little impact, so much so they don’t even need treatment. Others have more difficulty managing symptoms and may be limited physically and mentally.
Something every person with the disease or parent of a child with the disease should consider is joining a Gaucher disease organization.
Joining support groups that allow you to connect with others who have the disease can be emotionally beneficial.
Check with your healthcare team to find out if there are any support groups in your immediate area.
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- Gaucher Disease Carrier Status.
National Gaucher Foundation. Retrieved online, September 2019.
- An innovative approach to the treatment of Gaucher disease and possibly other metabolic disorders of the brain.
Roscoe O. Brady, Chunzhang Yang, and Zhengping Zhuang. May 2013.