What is Gaucher Disease?
Gaucher disease is a rare genetic disorder that affects the body’s ability to break down and store fats. It is caused by a deficiency of an enzyme called glucocerebrosidase, which leads to the accumulation of a fatty substance called glucocerebroside in cells and tissues throughout the body. This can cause a wide range of symptoms, including an enlarged spleen and liver, anemia, low platelet count, and bone abnormalities. There are three main types of Gaucher disease, classified based on the severity of the symptoms:
Type 1 (non-neuronopathic): This is the most common form of Gaucher disease and is typically characterized by mild to moderate symptoms.
Type 2 (acute neuronopathic): This form of Gaucher disease is characterized by severe neurological symptoms and a rapid decline in neurological function. It is the most severe form of the disease and is often fatal in infancy.
Type 3 (subacute neuronopathic): This form of Gaucher disease is intermediate in severity between Types 1 and 2. It is characterized by a slower decline in neurological function and a longer lifespan than Type 2.
Gaucher disease is caused by mutations in the GBA gene, which provides instructions for making the glucocerebrosidase enzyme. It is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the disease.
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Prevalence of Gaucher Disease
Gaucher disease is a rare disorder that affects an estimated 1 in 50,000 to 1 in 100,000 people worldwide. It is more common in certain populations, including Ashkenazi Jews (Eastern European Jews), where the prevalence may be as high as 1 in 450. Gaucher disease can affect people of all racial and ethnic backgrounds, although it is more common in people of Ashkenazi Jewish, Scandinavian, and French Canadian ancestry.
It is difficult to accurately estimate the prevalence of Gaucher disease in India, as it is a rare genetic disorder and there may be underdiagnosis and underreporting of cases. However, Gaucher disease is thought to be relatively common in certain populations in India, particularly in the Parsi community and certain groups in the states of Gujarat, Maharashtra, and Punjab. Some estimates suggest that the prevalence of Gaucher disease in the Parsi community in India may be as high as 1 in 2,500 to 1 in 5,000.
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What Causes Gaucher Disease?
Gaucher disease is a rare genetic disorder that is caused by a deficiency of an enzyme called glucocerebrosidase. This enzyme is responsible for breaking down and storing fats in the body. When there is a deficiency of this enzyme, fats accumulate in cells and tissues throughout the body, leading to the symptoms of Gaucher disease.
Gaucher disease is caused by mutations in the GBA gene, which provides instructions for making the glucocerebrosidase enzyme. These mutations can lead to a deficiency of the enzyme, resulting in the accumulation of fats in cells and tissues throughout the body. Gaucher disease is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the disease.
What are the symptoms of Gaucher disease?
The symptoms of Gaucher disease can vary depending on the type of the disease and the severity of the enzyme deficiency. In general, the symptoms of Gaucher disease may include:
An enlarged spleen and liver: These organs may become swollen due to the accumulation of fat cells. The spleen may also become damaged and may need to be removed.
Anemia: People with Gaucher disease may have low levels of red blood cells, which can cause fatigue and shortness of breath.
Low platelet count: Platelets are cells that help the blood clot, and a low platelet count can cause easy bruising and bleeding.
Bone abnormalities: People with Gaucher disease may have an increased risk of bone fractures, and may experience pain in the bones and joints.
There are three main types of Gaucher disease, classified based on the severity of the symptoms:
Type 1 (non-neuronopathic): This is the most common form of Gaucher disease and is typically characterized by mild to moderate symptoms. People with Type 1 Gaucher disease may have an enlarged spleen and liver, anemia, low platelet count, and bone abnormalities. They may also have a skin rash, yellowing of the skin (jaundice), and lung problems.
Type 2 (acute neuronopathic): This form of Gaucher disease is characterized by severe neurological symptoms and a rapid decline in neurological function. It is the most severe form of the disease and is often fatal in infancy. Symptoms may include seizures, exaggerated startle response, and a loss of muscle tone.
Type 3 (subacute neuronopathic): This form of Gaucher disease is intermediate in severity between Types 1 and 2. It is characterized by a slower decline in neurological function and a longer lifespan than Type 2. Symptoms may include delayed development, intellectual disability, and movement problems.
How is Gaucher disease diagnosed?
Gaucher disease is typically diagnosed through a combination of laboratory tests and genetic testing. Some common tests used to diagnose Gaucher disease may include:
Enzyme assays: These tests measure the levels of glucocerebrosidase enzyme in the blood or other body fluids. A deficiency of this enzyme is a hallmark of Gaucher disease.
Genetic testing: This test involves analyzing a person’s DNA to look for mutations in the GBA gene, which is responsible for producing the glucocerebrosidase enzyme.
Imaging tests: These may include x-rays, CT scans, or MRI scans, which can help to visualize the organs and bones and look for any abnormalities that may be characteristic of Gaucher disease.
Other tests: Other tests, such as blood tests or bone marrow biopsies, may be used to look for other characteristics of Gaucher disease, such as anemia or low platelet count.
It is important to note that the diagnosis of Gaucher disease may be challenging, as the symptoms may be similar to those of other conditions. It is important to work with a healthcare provider to receive a thorough evaluation and accurate diagnosis.
Treatment for Gaucher disease
There is no cure for Gaucher disease, but there are several treatments available that can help to manage the symptoms and improve the quality of life for people with the condition. The specific treatment options for Gaucher disease may include:
Enzyme replacement therapy: This involves replacing the missing glucocerebrosidase enzyme with a synthetic version of the enzyme. This treatment can help to reduce the buildup of fats in cells and tissues and improve symptoms such as anemia and low platelet count.
Substrate reduction therapy: This treatment works by reducing the production of the fatty substance (glucocerebroside) that accumulates in cells and tissues in people with Gaucher disease. This can help to reduce the severity of the disease and improve symptoms.
Bone marrow transplant: In some cases, a bone marrow transplant may be recommended for people with Gaucher disease, particularly those with severe bone abnormalities. A bone marrow transplant involves replacing the bone marrow with healthy cells from a donor.
Splenectomy: An enlarged spleen may cause discomfort and may need to be removed. This can help to improve the quality of life for people with Gaucher disease.
It is important to work with a healthcare provider to determine the most appropriate treatment plan for an individual with Gaucher disease. The treatment plan may need to be adjusted over time based on the severity of the disease and the response to treatment.
Following are the approved Enzyme Replacement Therapy for Gaucher Disease:
- Cerezyme® (imiglucerase) by Sanofi Genzyme
- VPRIV® (velaglucerase alfa) by Takeda
- Elelyso® (taliglucerase alfa) by Pfizer
Following are the approved Substrate Reduction Therapy available for Gaucher:
- Cerdelga® (eliglustat) by Sanofi Genzyme
- Zavesca® (miglustat) by Actelion
For more detailed information, please refer to the Gaucher Information Booklet published by the International Gaucher Alliance (IGA) here.
Clinical trials:
To get information about ongoing/planned clinical trials for Gaucher in India, click here.
If you or someone you know has been diagnosed with Gaucher, please contact us by filling out this form to get further information and support.
Frequently Asked Questions (FAQs)
Get answers to some of the frequently asked questions about Gaucher's disease!
Gaucher disease (also known as Gaucher’s disease) is a rare genetic disorder that affects the body’s ability to break down and store fats. It is caused by a deficiency of an enzyme called glucocerebrosidase, which leads to the accumulation of a fatty substance called glucocerebroside in cells and tissues throughout the body. This can cause a wide range of symptoms, including an enlarged spleen and liver, anemia, low platelet count, and bone abnormalities.
Gaucher disease is caused by mutations in the GBA gene, which provides instructions for making the glucocerebrosidase enzyme. It is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the disease. Gaucher disease can affect people of all racial and ethnic backgrounds, although it is more common in certain populations, including Ashkenazi Jews, Scandinavian, and French Canadian ancestry. There is no cure for Gaucher disease, but there are several treatments available that can help to manage the symptoms and improve the quality of life for people with the condition.
Gaucher disease can range in severity, and the outcome for people with the condition can vary. In general, Gaucher disease is not considered to be a fatal disorder, although the severity of the disease can vary significantly. Some people with Gaucher disease may have mild symptoms and a normal lifespan, while others may have more severe symptoms and may experience more significant health problems.
There are three main types of Gaucher disease, classified based on the severity of the symptoms:
Type 1 (non-neuronopathic): This is the most common form of Gaucher disease and is typically characterized by mild to moderate symptoms. People with Type 1 Gaucher disease may have an enlarged spleen and liver, anemia, low platelet count, and bone abnormalities. They may also have a skin rash, yellowing of the skin (jaundice), and lung problems.
Type 2 (acute neuronopathic): This form of Gaucher disease is characterized by severe neurological symptoms and a rapid decline in neurological function. It is the most severe form of the disease and is often fatal in infancy.
Type 3 (subacute neuronopathic): This form of Gaucher disease is intermediate in severity between Types 1 and 2. It is characterized by a slower decline in neurological function and a longer lifespan than Type 2. Symptoms may include delayed development, intellectual disability, and movement problems.
It is important to work with a healthcare provider to determine the most appropriate treatment plan for an individual with Gaucher disease. The treatment plan may need to be adjusted over time based on the severity of the disease and the response to treatment.
There is currently no cure for Gaucher disease. However, there are several treatments available that can help to manage the symptoms and improve the quality of life for people with the condition. The specific treatment options for Gaucher disease may include:
Enzyme replacement therapy: This involves replacing the missing glucocerebrosidase enzyme with a synthetic version of the enzyme. This treatment can help to reduce the buildup of fats in cells and tissues and improve symptoms such as anemia and low platelet count.
Substrate reduction therapy: This treatment works by reducing the production of the fatty substance (glucocerebroside) that accumulates in cells and tissues in people with Gaucher disease. This can help to reduce the severity of the disease and improve symptoms.
Bone marrow transplant: In some cases, a bone marrow transplant may be recommended for people with Gaucher disease, particularly those with severe bone abnormalities. A bone marrow transplant involves replacing the bone marrow with healthy cells from a donor.
Splenectomy: An enlarged spleen may cause discomfort and may need to be removed. This can help to improve the quality of life for people with Gaucher disease.
It is important to work with a healthcare provider to determine the most appropriate treatment plan for an individual with Gaucher disease. The treatment plan may need to be adjusted over time based on the severity of the disease and the response to treatment.
Gaucher disease is a rare genetic disorder that can affect people of all racial and ethnic backgrounds. However, it is more common in certain populations, including Ashkenazi Jews (Eastern European Jews), where the prevalence may be as high as 1 in 450. Gaucher disease is also more common in certain groups in the states of Gujarat, Maharashtra, and Punjab in India, and in people of Scandinavian and French Canadian ancestry.
Gaucher disease is caused by mutations in the GBA gene, which provides instructions for making the glucocerebrosidase enzyme. It is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the disease. This means that a person with Gaucher disease has inherited one copy of the mutated gene from each of their parents. A person who has only one copy of the mutated gene is a carrier of Gaucher disease, but they do not have the disease themselves. Carriers do not have any symptoms of Gaucher disease, but they can pass the mutated gene on to their children.
The symptoms of Gaucher disease can vary depending on the type of the disease and the severity of the enzyme deficiency. In general, the symptoms of Gaucher disease may include:
An enlarged spleen and liver: These organs may become swollen due to the accumulation of fat cells. The spleen may also become damaged and may need to be removed.
Anemia: People with Gaucher disease may have low levels of red blood cells, which can cause fatigue and shortness of breath.
Low platelet count: Platelets are cells that help the blood clot, and a low platelet count can cause easy bruising and bleeding.
Bone abnormalities: People with Gaucher disease may have an increased risk of bone fractures, and may experience pain in the bones and joints.
There are three main types of Gaucher disease, classified based on the severity of the symptoms:
Type 1 (non-neuronopathic): This is the most common form of Gaucher disease and is typically characterized by mild to moderate symptoms. People with Type 1 Gaucher disease may have an enlarged spleen and liver, anemia, low platelet count, and bone abnormalities. They may also have a skin rash, yellowing of the skin (jaundice), and lung problems.
Type 2 (acute neuronopathic): This form of Gaucher disease is characterized by severe neurological symptoms and a rapid decline in neurological function. It is the most severe form of the disease and is often fatal in infancy. Symptoms may include seizures, exaggerated startle response, and a loss of muscle tone.
Type 3 (subacute neuronopathic): This form of Gaucher disease is intermediate in severity between Types 1 and 2. It is characterized by a slower decline in neurological function and a longer lifespan than Type 2. Symptoms may include delayed development, intellectual disability, and movement problems.
According to the International Collaborative Gaucher Group (ICGG) Gaucher Registry, the mean life expectancy at birth of patients with Type 1 Gaucher has been reported as 68.2 years (63.9 years for splenectomised patients and 72.0 years for non-splenectomised patients), compared with 77.1 years in a reference population (>5000 phenotypically similar patients worldwide).
Type 2 Gaucher usually results in death within the first few years of life.
Patients with Type 3 Gaucher have a shorter life expectancy, but treatment helps some patients with relatively mild neurological involvement live into their 50s.
Treatment for Gaucher is prohibitively expensive, costing anywhere from several lakhs to a few crore rupees per year, lifelong. A few companies have been providing this treatment free of cost to some patients in India under their charitable access programmes. However, at present, getting the treatment under charitable access is very difficult as the companies are not accepting any more patients. Nevertheless, you can get yourself/the patient enrolled on the waiting list for charitable treatable for Gaucher patients maintained by the International Gaucher Alliance (IGA) by filling up this form and sending it to tanya@gaucheralliance.org, with a copy to contactus@lsdssindia.org.
In addition, please get yourself/the patient enrolled on Government of India’s digital portal for crowdfunding and CSR donations for rare diseases by meeting the doctor at your nearest COE with all medical reports for medical evaluation. You can find the details of your nearest COE here.
In addition, please register yourself with the LSDSS by completing this form to get support and the latest information about the disease.