- 5 Types
- Doctors and Specialists
- Life Expectancy
Facts you should know about Gaucher disease
- Gaucher disease is an inherited (genetic) condition that is due to a deficiency in the enzyme glucocerebrosidase.
- Gaucher disease leads to the accumulation of fatty substances in certain organs.
- Signs and symptoms of Gaucher disease include
- Signs and symptoms vary among people with Gaucher disease.
- There are several types of Gaucher disease including type 1, 2, 3 Gaucher disease; perinatal lethal Gaucher disease, and cardiovascular Gaucher disease.
- The most common type of Gaucher disease is type 1, and this type typically does not affect the nervous system.
- Type 2 Gaucher disease and perinatal lethal Gaucher disease are rare and severe forms of the disease.
- Gaucher disease is inherited in an autosomal recessive manner.
- Gaucher disease is most common in people of Ashkenazi Jewish descent, affecting about 1 out of every 855 people. In the non-Jewish population, Gaucher disease affects 1 out of every 40,000 people.
- Enzyme replacement therapy (ERT) is the main treatment for Gaucher disease.
- Those with family members affected with Gaucher disease may want to consider genetic counseling and screening for the genetic mutation.
What is Gaucher disease?
Gaucher disease (sometimes called Gaucher's disease) is an inherited condition that results in the abnormal accumulation of fatty substances known as glycolipids in different body tissues due to a deficiency of an enzyme known as glucocerebrosidase. There are several different types of the condition, and the signs and symptoms that arise due to the sphingolipid accumulation vary widely. Gaucher disease is due to a genetic defect in a gene known as GBA1. Gaucher disease belongs to a class of diseases called lysosomal storage diseases, named after a type of cell that is affected by the buildup of glycolipids.
What are the signs and symptoms of Gaucher disease?
The main signs and symptoms of Gaucher disease include the following:
- Anemia (low red blood cell count)
- Fatigue (tiredness)
- Low platelet count, that can lead to easy bruising
- Enlarged spleen and liver (hepatosplenomegaly)
- Enlarged Liver
- Lung problems
- Eye movement disorders
- Yellow spots in the eyes
- 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
People with type 1 Gaucher disease usually first notice painless enlargement of the spleen, anemia, or bleeding and bruising due to low platelet count. The enlargement of the spleen may become severe and may limit a child's growth due to the energy required to sustain the enlarging spleen. An enlarged liver and abnormal liver function tests are also characteristic signs. Skeletal involvement by Gaucher disease is common and can take the form of bone pain, fractures of bone, and a defect of the thigh bone (femur).
How is Gaucher disease inherited?
Gaucher disease is inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the defective gene in order for a child to be affected.
How common is Gaucher disease?
- In people of Ashkenazi Jewish descent Type 1 Gaucher disease (see below) is more common, and affects 1 out of every 855 people.
- About 1 out of every 15 people of Ashkenazi Jewish descent are thought to be carriers of the genetic mutation responsible for Gaucher disease.
- The other types of Gaucher disease do not occur more frequently in people of Ashkenazi Jewish heritage.
- In the non-Jewish population, Gaucher disease affects 1 out of every 40,000 people.
What are the five types of Gaucher disease?
Type 1 Gaucher disease
The most common form of the condition is type 1 Gaucher disease. About 90% of people with the condition have this type. The signs and symptoms of this type can vary in their extent of severity. The symptoms can appear in childhood or may be delayed until adulthood. The brain and spinal cord, or central nervous system (CNS), are typically not affected by the disease, so this type is sometimes referred to as non-neuronopathic, meaning that the condition does not affect nerve cells.
Type 2 Gaucher disease (acute neuronopathic form)
This rare type of Gaucher disease affects the nervous system and is termed neuronopathic Gaucher disease. Signs and symptoms include seizures, eye movement problems, and brain damage. Type 2 Gaucher disease is very severe and typically leads to life-threatening medical problems that begin in infancy.
Type 3 Gaucher disease (chronic neuronopathic form)
Like Type 2 Gaucher disease, type 3 Gaucher is a neuronopathic form of Gaucher disease that affects the nervous system, but symptoms do not progress as rapidly as in Type 2. The signs and symptoms may appear in infancy or later in childhood.
Perinatal lethal Gaucher disease
Perinatal lethal Gaucher disease is the most severe form of the condition. With this type, the life-threatening conditions can appear before birth. There may be excessive swelling and fluid accumulation in the fetus (hydrops fetalis) prior to birth. Other features can include severe neurological disturbances, abnormal facial features, hepatosplenomegaly, and dry or scaly skin. Most infants with this form of the condition survive only a few days after birth.
Cardiovascular Gaucher disease
This type of Gaucher disease, considered a rare subgroup of type 3 disease, primarily affects the heart, leading to calcification or hardening of the heart valves. Sometimes, symptoms and signs of other types of Gaucher disease may also be present.
What causes Gaucher disease?
All of the types of Gaucher disease are caused by a deficiency of the enzyme glucocerebrosidase, leading to an abnormal buildup of fatty substances, glycolipids, in the body cells. Mutations in the gene known as GBA1 are the cause of the deficient enzyme, and over 300 different GBA1 mutations have been identified in people with Gaucher disease. The mutations are inherited (passed from parent to offspring) in an autosomal recessive manner (see above).
- The four most common mutations of the GBA1 gene are N370S, L444P, 84gg, and IVS2[+1].
- DNA analysis for these 4 mutations can detect 90%-95% of the mutations associated with Gaucher Disease in the Ashkenazi Jewish population, and 50%-75% of the associated mutations in the general population.
Which specialties of doctors treat Gaucher disease?
Patients with Gaucher disease may be treated by a number of different medical specialists, depending on the type of the disease and the specific symptoms and signs of the condition they experience. These may include
- critical care specialists,
- cardiologists, and
Most patients who are treated with enzyme replacement therapy will have their treatment plan managed by a geneticist and/or hematologist.
Is there a test to diagnose Gaucher disease?
A blood test is used to make the diagnosis of Gaucher disease.
- The enzyme assay test measures the activity of the glucocerebrosidase enzyme in certain white blood cells. Having less than 15% of normal enzyme activity is diagnostic for Gaucher disease.
- Genetic analysis is also done to establish the specific type of mutations in the GBA1 gene.
What is the treatment for Gaucher disease?
There is no cure for Gaucher disease, but medical treatments are available. Enzyme replacement therapy (ERT) is the primary form of treatment for people with type 1 and Gaucher disease and for the non-neurologic symptoms of type 3 Gaucher disease. The drug is given intravenously, generally at 2-week intervals. There are three ERT drugs available, imiglucerase (Cerezyme), velaglucerase alfa (VPRIV), and taliglucerase alfa (Elelyso).
Other medications available to treat Gaucher disease include drugs that block the production of the sphingolipids that accumulate in cells and cause symptoms. These drugs are known as glucosylceramide synthase inhibitors and are taken by mouth. Two drugs in this class are miglustat (Zavesca) and eliglustat (Cerdelga).
Formerly, the condition was often treated by surgical removal of the spleen (splenectomy). However, this is typically not necessary given the availability of ERT.
What is the prognosis, or life expectancy, for someone with Gaucher disease?
- The prognosis for people with type 1 or type 3 Gaucher disease who receive treatment is very good.
- Many people with Gaucher disease have few symptoms and can expect a normal lifespan even without treatment.
- One study estimated life expectancy at birth for people with type 1 Gaucher disease to be 68 years, compared with 77 years in the general population.
- Type 2 Gaucher disease usually results in death within the first few years of life.
Should I talk to my family about Gaucher disease?
As with any inherited disease, sharing information with family members is important. If Gaucher disease is identified within a family, other family members may wish to be tested to find out if they are carriers for the gene mutation. Carrier testing is simple and can be performed on a sample of blood or saliva. Your health-care professional can help you decide if carrier testing is appropriate and may refer you to a genetic counselor for more information.
What help is available for patients and their families living with Gaucher disease?
Living with Gaucher disease or any chronic illness is stressful for both patient and family. Getting help and support are important for achieving the best quality of life possible while facing the challenges and that the illness brings. The National Gaucher Foundation (800-504-3189) offers educational and support services for affected families, including a mentor program, an electronic pen pal program for young adults, real-life patient stories, and numerous educational programs.
What other names are used to refer to Gaucher disease?
Gaucher disease has been referred to in the medical literature by a number of different names. These include:
- cerebroside lipidosis syndrome
- Gaucher splenomegaly
- Gaucher syndrome
- Gaucher's disease
- Gauchers disease
- glucocerebrosidase deficiency
- glucosyl cerebroside lipidosis
- glucosylceramidase deficiency
- glucosylceramide beta-glucosidase deficiency
- glucosylceramide lipidosis
- kerasin histiocytosis
- kerasin lipoidosis
- kerasin thesaurismosis
- lipoid histiocytosis (kerasin type)
National Gaucher Foundation. "Testing for Gaucher disease." <http://www.gaucherdisease.org/gaucher-disease-testing.php>
Sidransky, E., et al. "Gaucher disease. Medscape. Nov. 12, 2018. <http://emedicine.medscape.com/article/944157-overview>.
United States. National Library of Medicine; Genetics Home Reference. "Gaucher disease." Aug. 17, 2020. <https://ghr.nlm.nih.gov/condition/gaucher-disease#>.
Top Gaucher Disease Related Articles
AnemiaAnemia is the condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin in the blood. The oxygen-carrying capacity of the blood is, therefore, decreased. There are several types of anemia such as iron deficiency anemia (the most common type), sickle cell anemia, vitamin B12 anemia, pernicious anemia, and aplastic anemia. Symptoms of anemia may include fatigue, malaise, hair loss, palpitations, menstruation, and medications. Treatment for anemia includes treating the underlying cause for the condition. Iron supplements, vitamin B12 injections, and certain medications may also be necessary.
Arthritis (Joint Inflammation)Arthritis is inflammation of one or more joints. When joints are inflamed they can develop stiffness, warmth, swelling, redness and pain. There are over 100 types of arthritis, including osteoarthritis, rheumatoid arthritis, ankylosing spondylitis, psoriatic arthritis, and gout.
Broken BoneA broken bone is a fracture. There are different types of fractures, such as:
- vertebral compression,
- compound, and
Symptoms of a broken bone include pain at the site of injury, swelling, and bruising around the area of injury. Treatment of a fracture depends on the type and location of the injury.
Bumps and Bruises (Contusions and Ecchymoses)A bruise, or contusion, is caused when blood vessels are damaged or broken as the result of a blow to the skin. The raised area of a bump or bruise results from blood leaking from these injured blood vessels into the tissues as well as from the body's response to the injury. Treatments include applying an ice pack and pressure to the area by hand.
Cafe au Lait Macule PictureCafé au lait macule. A café au lait is a harmless birthmark that usually appears at birth or soon after. They are generally light brown in color but can darken with exposure to the sun.
Cerdelga (eliglustat)Cerdelga (eliglustat) is a prescription medicine used for the long-term treatment of Gaucher disease type 1 (GD1) in adults. Cerdelga is not used in certain people with Gaucher disease type 1. Cerdelga can affect the way other medicines work and other medicines can affect how Cerdelga works. Using Cerdelga with other medicines or herbal supplements may cause an increased risk of side effects especially tell your doctor if you take St. John’s Wort (Hypericum perforatum) or medicine for fungal infections, tuberculosis, seizures, heart conditions, high blood pressure, depression or other mental health problems. Avoid eating or drinking grapefruit products while taking Cerdelga. Grapefruit products can increase the amount of Cerdelga in your body. It is not known if Cerdelga is safe and effective in children.
Elelyso (taliglucerase alfa)Elelyso (taliglucerase alfa) for injection is a hydrolytic lysosomal glucocerebroside-specific enzyme indicated for long-term enzyme replacement therapy (ERT) for adults with a confirmed diagnosis of type 1 Gaucher disease. Common side effects of Elelyso include infusion reactions, cold symptoms (sore throat, runny or stuffy nose, sinus pain), throat infection, headache, joint pain, flu, urinary tract infection (UTI), back pain, pain in the extremities, fever, dizziness, fatigue, and others.
Enlarged Spleen (Splenomegaly) Symptoms, Signs, Causes,TreatmentAn enlarged spleen or splenomegaly is generally caused by other diseases or conditions such as infections, cancers, blood disorders, or decreased blood flow. Symptoms of an enlarged spleen are often unnoticed. A feeling of fullness after eating a small amount of food and not being able to eat large meals may be a symptom of an enlarged spleen. Treatment for an enlarged spleen depends upon the cause.
Fatigue and Exhaustion
Fatigue can be described in various ways. Sometimes fatigue is described as feeling a lack of energy and motivation (both mental and physical). The causes of fatigue are generally related to a variety of conditions or diseases, for example, anemia, mono, medications, sleep problems, cancer, anxiety, heart disease, and drug abuse.Treatment of fatigue is generally directed toward the condition or disease that is causing the fatigue.
Genetic DiseasesThe definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Hip PainArthritis, bursitis, IT band syndrome, fracture, and strain are just some of the causes of hip pain. Associated symptoms and signs include swelling, tenderness, difficulty sleeping on the hip, and loss of range of motion of the hip. Treatment depends upon the cause of the hip pain but may include anti-inflammatory medications and icing and resting the hip joint.
imiglucerase - injection, Cerezyme
Liver (Anatomy and Function)The liver is the largest gland and organ in the body. There are a variety of liver diseases caused by liver inflammation, scarring of the liver, infection of the liver, gallstones, cancer, toxins, genetic diseases, and blood flow problems. Symptoms of liver disease generally do not occur until the liver disease is advanced. Some symptoms of liver disease include jaundice, nausea and vomiting, easy bruising, bleeding excessively, fatigue, weakness, weight loss, shortness of breath, leg swelling, impotence, and confusion. Treatment of diseases of the liver depends on the cause.
Liver DiseaseLiver disease can be cause by a variety of things including infection (hepatitis), diseases, for example, gallstones, high cholesterol or triglycerides, blood flow obstruction to the liver, and toxins (medications and chemicals). Symptoms of liver disease depends upon the cause and may include nausea, vomiting, upper right abdominal pain, and jaundice. Treatment depends upon the cause of the liver disease.
Seizures: Symptoms and TypesSeizures occur when there is an abnormal burst of electrical activity in the brain and are divided into two categories: generalized and partial. Learn about the symptoms of different types of seizures, and check out the center below for more medical references on seizures, including multimedia (slideshows, images, and quizzes), related diseases, treatment, diagnosis, medications, and prevention or wellness.
Thrombocytopenia (Low Platelet Count)
Thrombocytopenia (low platelet count) refers to a decreased number of platelets in the blood. Symptoms of thrombocytopenia include:
- Increased bruising
- Spontaneous bleeding
- Small, purple spots under the skin called purpura
There are many causes of thrombocytopenia such as decreased platelet production (viral infections for example rubella, mumps, chickenpox, hepatitis C, and HIV); increased platelet destruction or consumption (for example sulfonamide antibiotics, heparin, blood transfusions, and lupus); or increased splenic sequestration (enlarged spleen due to conditions, for example, liver disease, blood cancers, and more). Treatment of thrombocytopenia depends on the cause.