Disorder name: Gaucher disease
- What is Gaucher disease?
- What causes Gaucher disease?
- What are the symptoms of Gaucher disease?
- What is the treatment for Gaucher disease?
- What happens when Gaucher disease is treated?
- What causes the glucocerebrosidase enzyme to be absent or not working correctly?
- How is Gaucher disease inherited?
- Is genetic testing available?
- What other testing is available?
- Can you test for Gaucher disease during a future pregnancy?
- Can other members of the family have Gaucher disease or be carriers?
- Can other family members be tested?
- How many people have Gaucher disease?
- Does Gaucher disease happen more often in a certain ethnic group?
- Does Gaucher disease go by any other names?
- Where can I find more information?
This fact sheet contains general information about Gaucher disease. Every child is different and some of this information may not apply to your child specifically. Certain treatments may be recommended for some children but not others. If you have specific questions about Gaucher disease and available treatments, you should contact your doctor.
WHAT IS GAUCHER DISEASE?
Gaucher disease is an Acquiring a trait from one’s parents. Most traits, such as eye color or hair color, are inherited from a parent through genes. disorder that affects many parts of the body, especially the This is an organ located behind the stomach. It gets rid of old blood cells and helps fight infection. The spleen can enlarge in people with cirrhosis or with certain metabolic disorders., liver, bones, and blood. Rarely, in more severe cases, the brain can be affected. People with Gaucher disease have problems breaking down a Fat is one of the three main nutrients in food (carbohydrates, fat, protein). Some foods that contain fat are butter, margarine, oils, nuts, meats, poultry, fish and some dairy products. Extra calories from food are stored as body fat. Stored body fat provides the body with a reserve supply of energy. called glucocerebroside (also known as glucosylceramide). Gaucher disease belongs to the group of diseases called These are a group of rare inherited disorders. People with lysosomal storage disorders have problems with breaking down large molecules within the lysosome. When the enzymes inside lysosomes are missing or not working properly, there can be a buildup of these molecules which causes a variety of health problems.. There is a wide range in the severity and age of onset for Gaucher disease.
|Lysosomal Storage Disorders
Lysosomal storage disorders (LSDs) are a group of inherited disorders. They are caused by A molecule that helps chemical reactions take place. For example, enzymes in the stomach speed up the process of breaking down food. Each enzyme can participate in many chemical reactions without changing or being used up. that do not work properly. Lysosomes are like recycling centers for cells. They are small sacs filled with many enzymes that help break down large molecules into smaller molecules that the body can re-use. are like recycling centers for The smallest living unit. Cells make up all organs and tissues in multi-cellular organisms, like humans. They can also live independently, as in bacteria and other microorganisms. At a minimum, a cell is surrounded by a membrane, contains DNA at some stage in its life, and is able to replicate itself into two equal parts.. They are small sacs filled with enzymes. These enzymes help break down large molecules into smaller molecules that the body can re-use. People with LSDs are missing enzymes or have non-working enzymes. As a result, these people have problems breaking down certain large molecules into usable forms. This leads to a buildup of these molecules, which causes a variety of problems. The symptoms and treatment vary between LSDs. They can also vary from person to person with the same LSD.
WHAT CAUSES GAUCHER DISEASE?
Gaucher disease is caused when an enzyme called “glucocerebrosidase” (GBA), is either missing or not working properly. This enzyme is located in the lysosomes. Its job is to recycle a complex fat (glucocerebroside) that is a normal part of cells.
When the body is unable to breakdown glucocerebroside, it builds up in the lysosomes. This buildup causes the lysosomes to swell and damage the cellular structures around them. The buildup of glucocerebroside in sensitive tissues like the spleen, liver, Bone marrow is the tissue that is located around the hollow center of bones. Bone marrow produces new red blood cells., bone, and other organs causes the symptoms of Gaucher disease.
WHAT ARE THE SYMPTOMS OF GAUCHER DISEASE?
The symptoms of Gaucher disease vary from person to person. Symptoms can begin at different ages. Some symptoms may start in infancy, adulthood, or may not be present at all. Without treatment, in severe cases the symptoms of Gaucher disease may be fatal. It is important to remember that each child is different and may experience symptoms differently.
There are three types of Gaucher disease:
- Type 1 (non-neuronopathic, late-onset)
- Type 2 (acute neuronopathic, infantile-onset)
- Type 3 (subacute neuronopathic, juvenile-onset)
Most individuals with Gaucher disease have type 1, the late-onset non-neuronopathic condition; these individuals tend to have more mild symptoms. While rarer, both the infantile-onset and juvenile-onset types of Gaucher disease have more severe symptoms.
Type 1 (non-neuronopathic, late-onset) Gaucher disease
Type 1 Gaucher disease is the most common type of Gaucher disease, with a wide range of age of onset and symptoms. Individuals with Type 1 Gaucher disease often do not develop symptoms until adulthood, although some people may have symptoms in childhood. Some individuals may never develop any symptoms of Type 1 Gaucher disease.
Symptoms of Type 1 Gaucher disease depend on the individual and their ability to produce the GBA enzyme to prevent glucocerebroside from building up.
- Bleeding problems – low blood count, frequent nose bleeds, problems with ability to clot
- Bone problems – fragile bones, frequent broken bones, bone pain
- Enlarged liver and spleen
- Fatigue is a feeling of weariness, tiredness, or lack of energy. Fatigue can be a normal and important response to physical exertion, emotional stress, or lack of sleep. However, it can also be a sign of a more serious health disorder.
- Low blood counts
- Lung disease
It is important for individuals with Type 1 Gaucher disease to be seen by a specialist to help treat, prevent, and manage any symptoms. Individuals with Type 1 Gaucher disease do not get brain and central nervous system symptoms. Enzyme replacement therapy may be helpful in preventing or reducing symptoms in the bones, blood, and liver.
Type 2 (acute neuronopathic, infantile-onset) Gaucher disease
Signs of Type 2 (acute neuronopathic infantile-onset) Gaucher disease usually appear within the first year of the baby’s life.
These signs and symptoms may include:
- Developmental disability
- Enlarged liver and spleen
- Poor ability to suck and swallow
- These are also called "convulsions" or "fits." During a seizure, a person loses consciousness and control of his or her muscles. It may also cause involuntary movements. Seizures can happen for many reasons. Some causes are metabolic disorders, a metabolic crisis, brain injury, and infection.
- Skin problems
- This is rigidity of the muscles and increased reflexes. It is caused by increased muscle tone. It results in abnormal tightness or stiffness of the muscles and joints. (jerking movements)
- Unusual eye movements
- Lung disease
Type 2 Gaucher disease is the rarest type, making up 1% of all Gaucher disease diagnoses. No successful treatment options exist for Type 2 Gaucher disease.
Type 3 (subacute neuronopathic, juvenile onset) Gaucher disease
Type 3 Gaucher disease typically appears during childhood, and has a slower development of symptoms when compared to Type 2 Gaucher disease.
These signs and symptoms may include:
- Blood disorders
- Bone deformities and frequent breaks
- Developmental delay
- Trouble with coordination
- Enlarged liver and spleen
- Lung disease
- Unusual eye movement
Individuals with Type 3 Gaucher disease can receive enzyme replacement therapy to limit some symptoms. This treatment is not effective at treating symptoms involving the brain and central nervous system. Enzyme replacement therapy may be helpful in preventing or reducing symptoms in the bones, blood, and liver.
WHAT IS THE TREATMENT FOR GAUCHER DISEASE?
People with Gaucher disease should be treated by a team of specialists who are familiar with the disorder. Which specialists are needed will depend on the person’s symptoms. All people with Gaucher disease should be seen by a biochemical genetics doctor (or This is a doctor or medical geneticist who has special training in diagnosing and treating metabolic disorders. They often work in university hospitals or large medical centers.). Their team may also include a A hematologist is a doctor who specializes in treating patients with blood disorders. Children with inherited blood conditions may have frequent check-ups with a hematologist. (blood doctor), A specialist in the anatomy, functions, and organic disorders of nerves and the nervous system. (brain doctor), A doctor who specializes in conditions affecting the digestive system (the organs in the body that eat and digest food) (liver doctor), orthopedist (bone doctor), and These are health care providers who have special training in genetic conditions. They help families understand genetic disorders and how they are passed down. Genetic counselors offer information and support to people who have genetic conditions in their families or are concerned that they may have a child with an inherited disorder.. This team can support the family and help manage the symptoms of Gaucher disease.
People with Gaucher disease will have an individualized treatment plan depending on the progression and symptoms of their condition. Certain treatments may be recommended for some children but not others. The following treatments and management are often recommended for children with Gaucher disease:
- Bone/Skeletal Support
Bone involvement is the most common cause of discomfort for individuals with late-onset Gaucher disease. The associated pain and limitations on mobility can be prevented with certain treatments. An orthopedist (bone doctor) can evaluate and monitor symptoms by measuring the strength of the bones using imaging (such as X-ray or This test uses magnetic waves to make pictures of the body. It can sometimes be used instead of x-rays to look at areas inside the body. It is often used to look at the brain or other inner organs.).
- Liver Care
Abdominal organs, especially the liver, can be affected by Gaucher disease. Cells with an accumulation of glucocerebroside can buildup in the organs and cause them to swell and not function normally. A gastroenterologist (liver doctor) can help monitor and manage symptoms of Gaucher disease.
- Psychosocial Support
Individual and family counseling, disease education, and participation in patient organizations, advocacy groups, and support groups are important for managing the emotional and psychological impact of Gaucher disease.
- A type of therapy that can be used in some metabolic disorders. In people who have certain enzymes either missing or not working correctly, an IV infusion that contains the enzyme can be given. Enzyme replacement therapy is not a cure, but can help with the health problems and symptoms of the disorder.
Gaucher disease is caused by not having enough of an enzyme called acid glucocerebrosidase (GBA). Enzyme replacement therapy gives people a replacement form of that enzyme intravenously. This new enzyme replaces GBA in people with Gaucher disease. This is a long-term treatment option, but it is not considered a cure. If enzyme replacement therapy is started at the onset of symptoms, it can often prevent or reduce the impact of some Gaucher disease symptoms. It does not prevent or reduce brain and central nervous system symptoms.
- A type of treatment sometimes used for lysosomal storage disorders (LSDs), usually given as an oral medication. In some LSDs, there is a buildup of excess ‘substrate’ which is harmful; this therapy reduces the amount of harmful substrate in the body.
Substrate reduction therapy aims to decrease the buildup of the fat, glucocerebroside. Substrate reduction therapy is given to individuals with mild to moderate late-onset Gaucher disease for which ERT is not a good option. Substrate reduction therapy is not approved for children or teens, pregnant or breastfeeding women, very elderly patients, or individuals with severe kidney or liver disease.
WHAT HAPPENS WHEN GAUCHER DISEASE IS TREATED?
Success of treatment for Gaucher disease depends on the type of Gaucher disease an individual has and the progression of the individual’s condition.
In children with Any condition that lasts for a long period of time or occurs frequently. For example, diabetes and hemochromatosis are both chronic conditions. Type 3 Gaucher disease, ERT may improve and prevent symptoms. ERT may increase bone strength and protect abdominal organs. ERT does not improve symptoms affecting the brain and central nervous system.
In individuals with late-onset Gaucher disease, ERT and SRT can be used to help prevent or improve symptoms.
With early The process of testing for a disease in a person who does not show the disease (non-symptomatic or asyntomatic). The goal of screening is to find the disease in its most important stages. and treatment, children with Gaucher disease are more likely to live healthy lives.
WHAT CAUSES THE GBA ENZYME TO BE ABSENT OR NOT WORKING CORRECTLY?
Genes tell the body to make different enzymes. The GBA gene provides the body the instructions to make the GBA enzyme. People with Gaucher disease have two GBA A segment of DNA that contains the instructions to make a specific protein (or part of a protein). Genes are contained on chromosomes. Chromosomes, and the genes on those chromosomes, are passed on from parent to child. Errors in the DNA that make up a gene are called variants and can lead to diseases. that do not work correctly. Because of the changes, also called A variant is a change or alteration in a person’s DNA sequence. Variants can happen in genes and affect how the gene functions. There are different types of variants – they can be non-problem causing (benign), disease-causing (pathogenic) or of unknown significance. The term variants is now used in place of the term mutation., in these two GBA genes, the GBA enzyme either does not work properly or is not made at all.
HOW IS GAUCHER DISEASE INHERITED?
Gaucher disease is inherited in an autosomal recessive manner. It affects both boys and girls equally.
In people with Gaucher disease, both GBA genes do not work correctly. These individuals inherit one non-working gene from each parent.
Parents of children with Gaucher disease usually do not have the condition themselves. Instead, each parent has one non-working gene and one working gene for the GBA enzyme. The parents are called A person who has one copy of a gene mutation for a particular autosomal recessive disorder (remember genes come in pairs). Carriers are not affected by the disorder. However, they can pass on the gene variant to their children. Children who inherit two such gene variants will be affected by the disorder. The term variants is now used in place of the term mutation.. Carriers do not have Gaucher disease because one of their GBA genes is working correctly. The working GBA gene is able to make enough GBA enzyme for the person to be healthy.
When both parents are carriers, each pregnancy has a 25% (1 in 4) chance of resulting in a child having Gaucher disease (has the disorder). There is a 50% (1 in 2) chance for the child to be a carrier, just like the parents. There is a 25% (1 in 4) chance that the child will have two working genes (normal).
Relating to (or due to) genes and heredity or the field of studying genes and heredity. counseling is available to families who have children with Gaucher disease. Genetic counselors can answer questions about how Gaucher disease is inherited, choices during future pregnancies, and how to test other family members. Ask your doctor about a referral to a genetic counselor.
IS GENETIC TESTING AVAILABLE?
A diagnosis of Gaucher disease is usually made based on a doctor’s evaluation and genetic testing. Genetic testing for Gaucher disease can be done on a blood sample. Genetic testing, also called DNA testing, looks for changes (variants) in the pair of genes that cause Gaucher disease. If a gene change has been found in other family members, testing can find out if your child has the same gene change.
Deoxyribonucleic acid (DNA) is a molecule found in the chromosomes that carries genetic information. DNA is composed of four units (called bases) that are designated A, T, G, and C. The sequence of the bases spell out instructions for making all of the proteins needed by an organism. A gene is a section of DNA that holds the instructions for a specific protein. A change in one or more of the DNA bases making up a gene is called a mutation. Some mutations change the protein instructions and can lead to particular health problems or disorders. Each parent passes half of their chromosomes, and thus half of their DNA instructions, onto their children. It is these instructions that cause certain traits, such as eye or hair color, to be inherited. testing is not always necessary to diagnose your child. It is helpful to know the gene changes in a child with Gaucher disease because it is essential for carrier or prenatal testing, discussed below.
WHAT OTHER TESTING IS AVAILABLE?
The process of testing for disease in a person who does not show signs of having the disease (nonsymptomatic or asymptomatic person). The goal of screening is to catch the disease in its early stages. Tests
A screening test that looks for different disorders using a small sample of blood taken from a newborn’s heel. A positive or abnormal newborn screening result means that there are slight differences that were found in the baby’s blood, and further testing is needed to figure out if the baby has a metabolic disorder.
Newborn screening for Gaucher disease is done in some states. A blood spot from the baby’s heel is used to screen for many different conditions. Newborn screening detects Gaucher disease by looking for GBA enzyme activity. GBA enzymes are active in every healthy newborn’s blood. Since babies with Gaucher disease have GBA enzymes that are either not working properly or not working at all, they will have reduced GBA enzyme activity.
If a baby has a positive screen for Gaucher disease through a newborn screening program, it does not mean that he or she has Gaucher disease. Low GBA enzyme activity levels can sometimes be found in people who never develop Gaucher disease. Therefore, a positive screening result means that further testing must be done to confirm or rule out Gaucher disease. Rarely, there can also be false positives with additional testing.
When one or both parents are known to be carriers of Gaucher disease, newborn screening results are not enough to rule out Gaucher disease in a newborn baby. In this case, more sensitive diagnostic testing should be done in addition to newborn screening, even if the newborn screening result is negative.
Serum Chitotriosidase Concentration
This blood test measures the amount of an enzyme called chitotriosidase in the blood. People with Gaucher disease will often have more chitotriosidase in their blood than expected. Many other conditions also cause elevated chitotriosidase levels in the blood, so this test cannot be used to make a definite diagnosis of Gaucher disease. However, this test may be used to monitor the progress of treatment of Gaucher disease in affected individuals.
Confirmatory testing is needed for a diagnosis of Gaucher disease. Each person may not need every one of the confirmatory tests listed below.
GBA Enzyme Activity
In this test, a small sample of blood is taken and the amount of GBA enzyme activity is measured. Test results are confirmed, if necessary, by again measuring the GBA enzyme activity in a tissue (usually a skin sample).
In the absence of symptoms, genetic testing can be used to determine an individual’s specific genetic change. This may help with classifying the type of Gaucher disease an individual has.
Bone Marrow This is a procedure that involves taking a small piece of tissue (like skin) from a person to help diagnose a condition.
In this test, a small sample of bone marrow is taken. If cells with an accumulation of glucocerebroside are seen in the sample, it can indicate Gaucher disease. This test is not always necessary to diagnose Gaucher disease.
CAN YOU TEST FOR GAUCHER DISEASE DURING A FUTURE PREGNANCY?
Prenatal genetic testing for Gaucher disease is only available if a genetic change has already been identified in the family. If not done prior to pregnancy, genetic testing to identify the genetic cause can be performed during the pregnancy. Once a genetic cause has been identified, DNA from the fetus can be tested. The sample for this testing is obtained by either CVS or This is a test done during pregnancy. A needle is used to remove a small sample of fluid from the sac around the fetus. The sample can be used to test for certain genetic disorders in the fetus. Amniocentesis to test for genetic conditions is usually done between 13 and 20 weeks of pregnancy..
Parents may choose to have testing during pregnancy or wait until birth to have the baby tested. Parents may also choose to use assisted reproductive techniques to decrease the chance that their future children would have Gaucher disease. A genetic counselor can talk to you about your choices and answer questions about prenatal testing or testing your baby after birth.
CAN OTHER MEMBERS OF THE FAMILY HAVE GAUCHER DISEASE OR BE CARRIERS?
Having Gaucher disease
Each full A person who shares the same mother or father. A brother or sister who shares both parents is called a full sibling. A brother or sister who only shares one parent is called a half sibling. (same mother and father) of a baby with Gaucher disease has a 25% (1 in 4) chance of also having Gaucher disease. Even older siblings who have not shown any symptoms of the disease could have late-onset Gaucher disease that has not caused symptoms yet, but may in the future. All siblings of an individual with Gaucher disease should be tested. Not all states offer newborn screening for Gaucher disease. Even if your baby’s siblings have had normal newborn screening, they should be tested specifically for Gaucher disease because early treatment can prevent more serious health problems. Talk to your doctor or genetic counselor about testing your other children for Gaucher disease.
Carrier for Gaucher disease
Each full sibling of a baby with Gaucher disease has a 50% (1 in 2) chance of being a carrier. Full siblings who do not have Gaucher disease have a 66% (2 in 3) chance of being a carrier.
If you are a parent of a child with Gaucher disease, your brothers and sisters have a 50% (1 in 2) chance of being a carrier. It is important for other family members to be told that they could be carriers. There is a small chance that they are also at risk to have children with Gaucher disease.
Not all states offer newborn screening for Gaucher disease. This makes it especially important to tell your family members if they are at risk for having a child with the disease.
CAN OTHER FAMILY MEMBERS BE TESTED?
Siblings of a child with Gaucher disease should be tested. Talk to your doctor or genetic counselor if you have questions about testing for Gaucher disease.
If both gene changes (variants) have been found in your child, other family members can have DNA testing to see if they are carriers. If you have questions about carrier testing, ask your genetic counselor or doctor.
HOW MANY PEOPLE HAVE GAUCHER DISEASE?
It is estimated that 1 in every 40,000-100,000 live births is a baby with Gaucher disease.
DOES GAUCHER DISEASE HAPPEN MORE OFTEN IN A CERTAIN ETHNIC GROUP?
Gaucher disease occurs in people of all ethnicities and races. However, it does occur more often in certain groups. Late onset is most commonly diagnosed in individuals of Ashkenazi Jewish decent. About 1 in every 850 Ashkenazi Jewish individuals has Gaucher Disease. 1 in 18 Ashkenazi Jewish individuals are carriers for the late onset condition.
Acute infantile onset occurs in all ethnicities and races, and is the least common type of Gaucher disease.
Chronic infantile onset occurs more often in individuals of Northern European, Egyptian, or East Asian descent.
DOES GAUCHER DISEASE GO BY ANY OTHER NAMES?
Gaucher disease is also called:
- Glucocerebrosidase Deficiency
- Glucosylceramidase Deficiency
- Cerebroside Lipidosis A group of symptoms and clinical findings that, when found together, make up a particular condition or disease.
- Gaucher splenomegaly
- Glucosyl cerebroside lipidosis
- Kerasin lipoidosis
- Kerasin thesaurismosis
- Lipid histiocytosis (kerasin type)
- Sphingolipidosis 1
WHERE CAN I FIND MORE INFORMATION?
National Gaucher Foundation
Children’s Gaucher Research Fund
National Organization for Rare Disorders
|HI, CA, OR, and WA metabolic specialists
|March 30, 2018
May 12, 2020
March 16, 2023
|March 16, 2023
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