Disease: Gaucher Disease

    Gaucher disease facts*

    *Gaucher disease facts medically edited by: Melissa Conrad Stöppler, MD

    • Gaucher disease is an inherited disorder of metabolism that interferes with many body functions.
    • There are different forms of Gaucher disease.
    • The perinatal lethal form is the most severe type of Gaucher disease.
    • Enlargement of the liver and spleen, anemia, bone abnormalities, and low platelet levels are among the symptoms of Gaucher disease.
    • Gaucher disease occurs in 1 out of every 50,000 to 100,000 people and is more common in people with Ashkenazi Jewish heritage. Gaucher disease is inherited in an autosomal recessive fashion.
    • Mutations in the GBA gene cause a defect in the enzyme beta-glucocerebrosidase, leading to a buildup of glucocerebroside within cells.
    • Enzyme replacement therapy is a treatment option for some people with Gaucher disease.
    • The most common form of the condition is Gaucher disease type 1.

    What is Gaucher disease?

    Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features.

    Type 1 Gaucher disease signs and symptoms

    Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis.

    Types 2 and 3 Gaucher disease signs and symptoms

    Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but tends to progress more slowly than type 2.

    Perinatal Gaucher disease

    The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth.

    Cardiovascular type Gaucher disease signs and symptoms

    Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).

    What how common is Gaucher disease?

    Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population. Type 1 is the most common form of the disorder, and occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. This condition affects 1 in 500 to 1,000 people of Ashkenazi Jewish heritage. The other forms of Gaucher disease are uncommon, and do not occur more frequently in people of Ashkenazi Jewish descent.

    Who is at risk for Gaucher disease?

    • Gaucher occurs in both males and females.
    • Gaucher affects people of all races and ethnicities, all over the world.
    • Gaucher is more common in people of Ashkenazi (Eastern European) Jewish descent.
    • The signs and symptoms of Gaucher may appear in affected individuals at any age.
    • The signs and symptoms of Gaucher may be very different within families, even between siblings.
    • When both parents are carriers, there is a 1 in 4 (25%) chance that any child born will have Gaucher.
    • If one parent has the disease and the other parent is a carrier, there is a 1 in 2 (50%) chance that any child born will have Gaucher.
    • When both parents have Gaucher, all of their children will inherit the disease.

    What are the major signs and symptoms of Gaucher disease?

    Major signs and symptoms of Gaucher disease
    • Anemia (low red blood cell count)
    • Fatigue (tiredness)
    • Low platelet count
    • Easy bruising
    • Large spleen and liver
    • Easy bleeding that is difficult to stop
    • Bone pain, bone crisis (severe bone pain often accompanied
    • by fever), and the chance of easily broken bones
    • Reduced bone mineral density

    What genes are related to Gaucher disease?

    Mutations in the GBA gene cause Gaucher disease.

    The GBA gene provides instructions for making an enzyme called beta-glucocerebrosidase. This enzyme breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). Mutations in the GBA gene greatly reduce or eliminate the activity of beta-glucocerebrosidase. Without enough of this enzyme, glucocerebroside and related substances can build up to toxic levels within cells. Tissues and organs are damaged by the abnormal accumulation and storage of these substances, causing the characteristic features of Gaucher disease.

    How do people inherit Gaucher disease?

    This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

    What is the treatment for Gaucher disease?

    Medication
    • Treatment for Gaucher disease depends upon the type of Gaucher disease and the symptoms and signs of the disease.
    • Symptoms in individuals with type 1 Gaucher disease may be treated with enzyme replacement therapy (ERT). ERT is not an optoin for all patients with Gaucher disease, so for those patients glucosylceramide synthase inhibitors like miglustat (Zavesca) and eliglustat (Cerdelga) are available.
    Surgery
    • Some individuals with Gaucher disease may need surgery if ERT is not effective.

    Why should I talk to my family about Gaucher disease?

    Gaucher is a rare condition (relative to other chronic health conditions). Most people do not know what it is and might never have heard of it. You may find that many doctors and other health-care professionals do not know much about it. It is important to help your family and healthcare providers understand what Gaucher is, what it means for you, and how your diagnosis might impact your family. Some topics to share are major signs and symptoms and how the condition is passed down through families. Turn the page for more information on Gaucher.

    Sharing your story will help your relatives understand their family health history. In turn, it is helpful for you to know your whole family health history, including Gaucher and other conditions that might run in your family. Putting the whole picture together will help you and your relatives:

    • Identify risks due to shared genes.
    • Talk to each other about health (including quality of life).
    • Summarize health information to give to health-care professionals.

    How are families affected by Gaucher disease?

    A diagnosis of Gaucher in any person may reveal an increased risk that others in the family may carry the gene, or in fact have Gaucher. This includes siblings, parents, and children as well as more distant relatives such as cousins. Genetic counseling for families with Gaucher is important to help address who should be tested for Gaucher in order to determine if they have Gaucher of if they are carriers.

    Hints for health
    • Early diagnosis may reduce risk of serious medical complications.
    • Gaucher is a lifelong condition. Visit your doctor regularly for check-ups. Specific monitoring over time will help your physician keep track of your liver and spleen size, platelet levels, and bone health.

    Why is it important to let my family know I have Gaucher disease?

    Gaucher is an inherited condition. This means it is passed on through generations. If you or someone in your family has Gaucher, other family members, adults or children, may also have Gaucher and not know it. Knowing this family health history can help you make smart choices for yourself and your family. For example, you can:

    • Get yourself and your partner tested for Gaucher and carrier status.
    • Make informed reproductive choices.
    • Get treatment at the first sign of symptoms.

    How do I talk to my family about Gaucher disease?

    Gaucher may cause symptoms that are different from common conditions like heart disease, diabetes, and cancer, but the steps you take to talk to your family about it can be similar.

    Talk to your family

    Your relatives are the best source of information about your family. This means you are a source of information for them in return. Family history is often shared during conversations at events like birthday parties, weddings, reunions, religious gatherings, holiday dinners, and funerals. These events provide an opportunity to talk to family members about their lives. You can ask them questions about their health and tell them what you know about yours.

    Use what you have

    Test results, letters from your doctor, or other information you received about your diagnosis can be shared with family to help them understand your circumstances. It may help explain their chances of having Gaucher or the chance of children inheriting Gaucher from their parents. Websites and brochures that have been useful for you might also be useful for your family members. This booklet can be passed along to help explain family health history and Gaucher.

    Plan an individual conversation

    After you have brought up Gaucher, you may want to talk with certain family members in more detail. Some people respond better to one-on-one talks rather than conversations in a large group setting. This will give you the chance to address any questions they have and ask questions of your own.

    After you have brought up Gaucher, you may want to talk with certain family members in more detail. Some people respond better to one-on-one talks rather than conversations in a large group setting. This will give you the chance to address any questions they have and ask questions of your own.

    Bring support

    After you have brought up Gaucher, you may want to talk with certain family members in more detail. Some people respond better to one-on-one talks rather than conversations in a large group setting. This will give you the chance to address any questions they have and ask questions of your own.

    Send a letter

    You may wish to send a letter to your family with an update on your health and information about Gaucher. Your physician or genetic counselor may be able to help you write this letter and identify who in the family would benefit from being informed.

    How do I prepare to talk to my family about Gaucher disease?

    Know the facts

    Know the facts about Gaucher so you can answer any questions your family members have or refer them to other resources. Use your own experiences and information you learned from your doctor and others. Remember, Gaucher varies from person to person, so talk to your healthcare provider for medical advice.

    Know how it might impact your family

    For each family member you talk to, understand what your diagnosis might mean for him or her. For example, other family members may have an increased chance of being a carrier for Gaucher. This means they have one copy of the gene change. This is not a medical problem, but it is helpful information for family planning. Because Gaucher can run in families, it is possible that some of your relatives have Gaucher themselves.

    Get ready for different reactions

    Be sensitive to a person's wishes not to talk about certain topics. Some relatives might not be comfortable hearing about Gaucher or other health conditions right away. Make it clear that you are available to talk whenever they are ready.

    Conversation starters

    There are many ways to talk to your family about health and Gaucher. After you tell your family your story, you might want to let them know what

    Health problems associated with Gaucher
    • Easy bruising
    • Prolonged bleeding time after getting a cut
    • Easy fatigue (tiredness)
    • Bone pain
    • Enlarged abdomen caused by enlarged liver or enlarged spleen
    Questions about family to help build a family history
    • Do you know if your parents or grandparents took medicine on a regular basis? If so, what kinds and for what?
    • Has anyone had problems in pregnancy or childbirth? What kinds of problems?
    • Are there any diseases that run in our family?
    • Is there anything else you would like to tell me about your life or health concerns in our family?

    What should I do if my family does not want to talk about Gaucher disease?

    Some family members might not understand why it is important to know this information. Others might be nervous about receiving a diagnosis of Gaucher themselves. It is normal to be anxious or uncomfortable if something is unfamiliar. We are all at different emotional places at different times and will process the information differently.

    You may wish to start the conversation with other conditions that they are more familiar with that run in your family, like high blood pressure or asthma. Then move on to Gaucher. Make it clear that although there is no way to lower your risk for Gaucher, you can still lead your life just like they do, with hobbies, a career, and a family.

    Try to get them involved even if they express denial. If they are not willing to take steps to learn more on their own behalf, they might be willing to do it for the rest of their family

    If family members remain unwilling to talk about it, respect their wishes. Try to understand that it is not unusual for family members to react to the news differently.

    Let them know you are available to talk when they are ready and if they have questions, and give them some resources for when they are ready to learn more.

    When family members do not want to talk about Gaucher, you might feel upset or alone. Seek support from doctors, friends, other family members, or other people you know with Gaucher.

    The National Gaucher Foundation Mentor Program is another good place to turn to connect with others in the Gaucher community for information, advice and support. There are also online groups with Gaucher patients from around the world ready to listen, help and welcome newly diagnosed Gaucher patients and family.

    Where can I find information about management for Gaucher disease?

    These resources address the diagnosis or management of Gaucher disease and may include treatment health-care professionals.

    • Baby's First Test This link leads to a site outside Genetics Home Reference.
    • Gene Review: Gaucher Disease This link leads to a site outside Genetics Home Reference.
    • Genetic Testing Registry: Acute neuronopathic Gaucher's disease This link leads to a site outside Genetics Home Reference.
    • Genetic Testing Registry: Gaucher's disease, type 1 This link leads to a site outside Genetics Home Reference.
    • Genetic Testing Registry: Gaucher disease This link leads to a site outside Genetics Home Reference.
    • Genetic Testing Registry: Gaucher disease type 3A This link leads to a site outside Genetics Home Reference.
    • Genetic Testing Registry: Gaucher disease type 3B This link leads to a site outside Genetics Home Reference.
    • Genetic Testing Registry: Gaucher disease type 3C This link leads to a site outside Genetics Home Reference.
    • Genetic Testing Registry: Subacute neuronopathic Gaucher's disease This link leads to a site outside Genetics Home Reference.

    What how common is Gaucher disease?

    Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population. Type 1 is the most common form of the disorder, and occurs more frequently in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. This condition affects 1 in 500 to 1,000 people of Ashkenazi Jewish heritage. The other forms of Gaucher disease are uncommon, and do not occur more frequently in people of Ashkenazi Jewish descent.

    Who is at risk for Gaucher disease?

    • Gaucher occurs in both males and females.
    • Gaucher affects people of all races and ethnicities, all over the world.
    • Gaucher is more common in people of Ashkenazi (Eastern European) Jewish descent.
    • The signs and symptoms of Gaucher may appear in affected individuals at any age.
    • The signs and symptoms of Gaucher may be very different within families, even between siblings.
    • When both parents are carriers, there is a 1 in 4 (25%) chance that any child born will have Gaucher.
    • If one parent has the disease and the other parent is a carrier, there is a 1 in 2 (50%) chance that any child born will have Gaucher.
    • When both parents have Gaucher, all of their children will inherit the disease.

    What are the major signs and symptoms of Gaucher disease?

    Major signs and symptoms of Gaucher disease
    • Anemia (low red blood cell count)
    • Fatigue (tiredness)
    • Low platelet count
    • Easy bruising
    • Large spleen and liver
    • Easy bleeding that is difficult to stop
    • Bone pain, bone crisis (severe bone pain often accompanied
    • by fever), and the chance of easily broken bones
    • Reduced bone mineral density

    What genes are related to Gaucher disease?

    Mutations in the GBA gene cause Gaucher disease.

    The GBA gene provides instructions for making an enzyme called beta-glucocerebrosidase. This enzyme breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). Mutations in the GBA gene greatly reduce or eliminate the activity of beta-glucocerebrosidase. Without enough of this enzyme, glucocerebroside and related substances can build up to toxic levels within cells. Tissues and organs are damaged by the abnormal accumulation and storage of these substances, causing the characteristic features of Gaucher disease.

    How do people inherit Gaucher disease?

    This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

    What is the treatment for Gaucher disease?

    Medication
    • Treatment for Gaucher disease depends upon the type of Gaucher disease and the symptoms and signs of the disease.
    • Symptoms in individuals with type 1 Gaucher disease may be treated with enzyme replacement therapy (ERT). ERT is not an optoin for all patients with Gaucher disease, so for those patients glucosylceramide synthase inhibitors like miglustat (Zavesca) and eliglustat (Cerdelga) are available.
    Surgery
    • Some individuals with Gaucher disease may need surgery if ERT is not effective.

    Why should I talk to my family about Gaucher disease?

    Gaucher is a rare condition (relative to other chronic health conditions). Most people do not know what it is and might never have heard of it. You may find that many doctors and other health-care professionals do not know much about it. It is important to help your family and healthcare providers understand what Gaucher is, what it means for you, and how your diagnosis might impact your family. Some topics to share are major signs and symptoms and how the condition is passed down through families. Turn the page for more information on Gaucher.

    Sharing your story will help your relatives understand their family health history. In turn, it is helpful for you to know your whole family health history, including Gaucher and other conditions that might run in your family. Putting the whole picture together will help you and your relatives:

    • Identify risks due to shared genes.
    • Talk to each other about health (including quality of life).
    • Summarize health information to give to health-care professionals.

    How are families affected by Gaucher disease?

    A diagnosis of Gaucher in any person may reveal an increased risk that others in the family may carry the gene, or in fact have Gaucher. This includes siblings, parents, and children as well as more distant relatives such as cousins. Genetic counseling for families with Gaucher is important to help address who should be tested for Gaucher in order to determine if they have Gaucher of if they are carriers.

    Hints for health
    • Early diagnosis may reduce risk of serious medical complications.
    • Gaucher is a lifelong condition. Visit your doctor regularly for check-ups. Specific monitoring over time will help your physician keep track of your liver and spleen size, platelet levels, and bone health.

    Why is it important to let my family know I have Gaucher disease?

    Gaucher is an inherited condition. This means it is passed on through generations. If you or someone in your family has Gaucher, other family members, adults or children, may also have Gaucher and not know it. Knowing this family health history can help you make smart choices for yourself and your family. For example, you can:

    • Get yourself and your partner tested for Gaucher and carrier status.
    • Make informed reproductive choices.
    • Get treatment at the first sign of symptoms.

    How do I talk to my family about Gaucher disease?

    Gaucher may cause symptoms that are different from common conditions like heart disease, diabetes, and cancer, but the steps you take to talk to your family about it can be similar.

    Talk to your family

    Your relatives are the best source of information about your family. This means you are a source of information for them in return. Family history is often shared during conversations at events like birthday parties, weddings, reunions, religious gatherings, holiday dinners, and funerals. These events provide an opportunity to talk to family members about their lives. You can ask them questions about their health and tell them what you know about yours.

    Use what you have

    Test results, letters from your doctor, or other information you received about your diagnosis can be shared with family to help them understand your circumstances. It may help explain their chances of having Gaucher or the chance of children inheriting Gaucher from their parents. Websites and brochures that have been useful for you might also be useful for your family members. This booklet can be passed along to help explain family health history and Gaucher.

    Plan an individual conversation

    After you have brought up Gaucher, you may want to talk with certain family members in more detail. Some people respond better to one-on-one talks rather than conversations in a large group setting. This will give you the chance to address any questions they have and ask questions of your own.

    After you have brought up Gaucher, you may want to talk with certain family members in more detail. Some people respond better to one-on-one talks rather than conversations in a large group setting. This will give you the chance to address any questions they have and ask questions of your own.

    Bring support

    After you have brought up Gaucher, you may want to talk with certain family members in more detail. Some people respond better to one-on-one talks rather than conversations in a large group setting. This will give you the chance to address any questions they have and ask questions of your own.

    Send a letter

    You may wish to send a letter to your family with an update on your health and information about Gaucher. Your physician or genetic counselor may be able to help you write this letter and identify who in the family would benefit from being informed.

    How do I prepare to talk to my family about Gaucher disease?

    Know the facts

    Know the facts about Gaucher so you can answer any questions your family members have or refer them to other resources. Use your own experiences and information you learned from your doctor and others. Remember, Gaucher varies from person to person, so talk to your healthcare provider for medical advice.

    Know how it might impact your family

    For each family member you talk to, understand what your diagnosis might mean for him or her. For example, other family members may have an increased chance of being a carrier for Gaucher. This means they have one copy of the gene change. This is not a medical problem, but it is helpful information for family planning. Because Gaucher can run in families, it is possible that some of your relatives have Gaucher themselves.

    Get ready for different reactions

    Be sensitive to a person's wishes not to talk about certain topics. Some relatives might not be comfortable hearing about Gaucher or other health conditions right away. Make it clear that you are available to talk whenever they are ready.

    Conversation starters

    There are many ways to talk to your family about health and Gaucher. After you tell your family your story, you might want to let them know what

    Health problems associated with Gaucher
    • Easy bruising
    • Prolonged bleeding time after getting a cut
    • Easy fatigue (tiredness)
    • Bone pain
    • Enlarged abdomen caused by enlarged liver or enlarged spleen
    Questions about family to help build a family history
    • Do you know if your parents or grandparents took medicine on a regular basis? If so, what kinds and for what?
    • Has anyone had problems in pregnancy or childbirth? What kinds of problems?
    • Are there any diseases that run in our family?
    • Is there anything else you would like to tell me about your life or health concerns in our family?

    What should I do if my family does not want to talk about Gaucher disease?

    Some family members might not understand why it is important to know this information. Others might be nervous about receiving a diagnosis of Gaucher themselves. It is normal to be anxious or uncomfortable if something is unfamiliar. We are all at different emotional places at different times and will process the information differently.

    You may wish to start the conversation with other conditions that they are more familiar with that run in your family, like high blood pressure or asthma. Then move on to Gaucher. Make it clear that although there is no way to lower your risk for Gaucher, you can still lead your life just like they do, with hobbies, a career, and a family.

    Try to get them involved even if they express denial. If they are not willing to take steps to learn more on their own behalf, they might be willing to do it for the rest of their family

    If family members remain unwilling to talk about it, respect their wishes. Try to understand that it is not unusual for family members to react to the news differently.

    Let them know you are available to talk when they are ready and if they have questions, and give them some resources for when they are ready to learn more.

    When family members do not want to talk about Gaucher, you might feel upset or alone. Seek support from doctors, friends, other family members, or other people you know with Gaucher.

    The National Gaucher Foundation Mentor Program is another good place to turn to connect with others in the Gaucher community for information, advice and support. There are also online groups with Gaucher patients from around the world ready to listen, help and welcome newly diagnosed Gaucher patients and family.

    Where can I find information about management for Gaucher disease?

    These resources address the diagnosis or management of Gaucher disease and may include treatment health-care professionals.

    • Baby's First Test This link leads to a site outside Genetics Home Reference.
    • Gene Review: Gaucher Disease This link leads to a site outside Genetics Home Reference.
    • Genetic Testing Registry: Acute neuronopathic Gaucher's disease This link leads to a site outside Genetics Home Reference.
    • Genetic Testing Registry: Gaucher's disease, type 1 This link leads to a site outside Genetics Home Reference.
    • Genetic Testing Registry: Gaucher disease This link leads to a site outside Genetics Home Reference.
    • Genetic Testing Registry: Gaucher disease type 3A This link leads to a site outside Genetics Home Reference.
    • Genetic Testing Registry: Gaucher disease type 3B This link leads to a site outside Genetics Home Reference.
    • Genetic Testing Registry: Gaucher disease type 3C This link leads to a site outside Genetics Home Reference.
    • Genetic Testing Registry: Subacute neuronopathic Gaucher's disease This link leads to a site outside Genetics Home Reference.

    Source: http://www.rxlist.com

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