What is Gaucher Disease?
Learn about the types, symptoms, and treatment options for Gaucher disease.
Understanding Gaucher disease
Gaucher (pronounced go-shay) disease is a rare, progressive, inherited condition that causes a fatty substance, called glucosylceramide (gloo-ko-sil-saramide, also called GL-1), to build up in various tissues including liver, spleen, bone marrow, and in some patients, the brain. Gaucher disease has a range of symptoms and severity. Gaucher disease can be divided into 3 types (type 1, type 2, and type 3) based on the presence of neurologic symptoms and how quickly they progress. There are no FDA-approved treatments for Gaucher disease type 2.
More than 90% of patients with Gaucher disease in the United States have type 1. While Gaucher disease affects 1 in 40,000 people in the general population, Gaucher disease type 1 is more prevalent among the Ashkenazi Jewish community. About 1 in 500 to 1 in 1,000 Ashkenazi Jewish people have Gaucher disease type 1.
PATIENTS MAY EXPERIENCE
Enlarged liver and spleen, causing a distended or enlarged abdomen
Low red blood cell count (anemia) may cause fatigue; reduced platelets in the blood can make it harder for your blood to clot and may cause bruising or bleeding
Bone problems, such as delayed growth (in children), bone weakness, bone pain, bone erosion, and the possibility of the eventual collapse of the bone itself
Gaucher disease type 3, which is rare in the United States, affects both the brain and the body. Symptoms typically begin in childhood. The body symptoms are similar to those seen in type 1 and the neurologic symptoms progress more slowly than those seen in type 2.
PATIENTS MAY EXPERIENCE*
Enlarged liver and spleen, causing a distended or enlarged abdomen
Low red blood cell count (anemia) may cause fatigue; reduced platelets in the blood can make it harder for your blood to clot and may cause bruising or bleeding
Bone problems, such as delayed growth (in children), curved spine (kyphosis), bone weakness, bone pain, bone erosion, and the possibility of the eventual collapse of the bone itself
Neurologic symptoms, such as abnormal eye movement, difficulty with coordination and balance, memory and concentration problems, and seizures
Cerezyme does not cross the blood-brain barrier or treat neurological manifestations.
*Each patient may present with one or more of the listed symptoms, which can range in severity. This is not a comprehensive list of all the possible symptoms of Gaucher disease type 3.
Treating Gaucher disease type 1 and type 3
The goal of treatment is to reduce or prevent the build-up of GL-1. Existing therapies can treat organ-, blood-, and bone-related symptoms of Gaucher disease types 1 and 3. However, there are no FDA-approved treatments for neurologic symptoms of Gaucher disease. Treatment outcomes may vary among patients.
Enzyme replacement therapy (ERT)
- Available for non-CNS symptoms of Gaucher disease types 1 and 3
- Intravenous (IV) infusions
- Adds a modified version of the enzyme to help your body break down GL-1
Substrate reduction therapy (SRT)
- Available for Gaucher disease type 1 only
- Oral medicine taken daily
- Reduces the amount of GL-1 that is produced
Talk to your doctor about which treatment is right for you.
CNS=central nervous system; FDA=Food and Drug Administration.
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About Cerezyme
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Treating With Cerezyme
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Important Safety Information
WARNING: SEVERE ALLERGIC REACTIONS
Allergic reactions, including severe reactions that may be serious or life-threatening (known as anaphylaxis), have occurred during the early course and after repeated treatment with CEREZYME.
Your healthcare professional should initiate CEREZYME in a healthcare setting with appropriate medical monitoring and support measures. If a severe allergic or anaphylactic reaction occurs, your healthcare professional will immediately stop the infusion and provide appropriate medical treatment.
Seek immediate medical care should symptoms occur.
Cerezyme can cause serious side effects including:
Allergic Reactions (Including Anaphylaxis) and Infusion-Associated Reactions (IARs):
Signs of an allergic reaction reported during or shortly after an infusion included itching, flushing, hives, swelling under the skin, chest discomfort, shortness of breath, coughing, a bluish discoloration of the skin due to diminished oxygen, rapid heart rate, and low blood pressure.
Signs of an infusion reaction included rash, chills, fatigue, infusion-site burning, infusion-site discomfort, or infusion-site swelling, fever, and high blood pressure. Tell your healthcare professional right away if you experience any reactions. Your healthcare professional may slow or stop the infusion or may lower the next dose. Your healthcare professional may decide to give you antihistamine, anti-fever, and/or steroid medications before your infusions and monitor you for new signs and symptoms of a reaction.
Common Side Effects:
- Common side effects reported in adults and children include back pain, chills, dizziness, fatigue, headache, allergic reactions, nausea, fever, and vomiting.
Please see accompanying Full Prescribing Information, including Boxed WARNING.
Cerezyme® (imiglucerase) for injection is indicated for the treatment of non-central nervous system (CNS) manifestations of Type 1 or Type 3 Gaucher disease in adult and pediatric patients.
Important Safety Information
WARNING: SEVERE ALLERGIC REACTIONS
Allergic reactions, including severe reactions that may be serious or life-threatening (known as anaphylaxis), have occurred during the early course and after repeated treatment with CEREZYME.
Your healthcare professional should initiate CEREZYME in a healthcare setting with appropriate medical monitoring and support measures. If a severe allergic or anaphylactic reaction occurs, your healthcare professional will immediately stop the infusion and provide appropriate medical treatment.
Seek immediate medical care should symptoms occur.
Cerezyme can cause serious side effects including:
Allergic Reactions (Including Anaphylaxis) and Infusion-Associated Reactions (IARs):
Signs of an allergic reaction reported during or shortly after an infusion included itching, flushing, hives, swelling under the skin, chest discomfort, shortness of breath, coughing, a bluish discoloration of the skin due to diminished oxygen, rapid heart rate, and low blood pressure.
Signs of an infusion reaction included rash, chills, fatigue, infusion-site burning, infusion-site discomfort, or infusion-site swelling, fever, and high blood pressure. Tell your healthcare professional right away if you experience any reactions. Your healthcare professional may slow or stop the infusion or may lower the next dose. Your healthcare professional may decide to give you antihistamine, anti-fever, and/or steroid medications before your infusions and monitor you for new signs and symptoms of a reaction.
Common Side Effects:
- Common side effects reported in adults and children include back pain, chills, dizziness, fatigue, headache, allergic reactions, nausea, fever, and vomiting.
Please see accompanying Full Prescribing Information, including Boxed WARNING.
Cerezyme® (imiglucerase) for injection is indicated for the treatment of non-central nervous system (CNS) manifestations of Type 1 or Type 3 Gaucher disease in adult and pediatric patients.
Important Safety Information
WARNING: SEVERE ALLERGIC REACTIONS
Allergic reactions, including severe reactions that may be serious or life-threatening (known as anaphylaxis), have occurred during the early course and after repeated treatment with CEREZYME.
Your healthcare professional should initiate CEREZYME in a healthcare setting with appropriate medical monitoring and support measures. If a severe allergic or anaphylactic reaction occurs, your healthcare professional will immediately stop the infusion and provide appropriate medical treatment.
Seek immediate medical care should symptoms occur.
Cerezyme can cause serious side effects including:
Allergic Reactions (Including Anaphylaxis) and Infusion-Associated Reactions (IARs):
Signs of an allergic reaction reported during or shortly after an infusion included itching, flushing, hives, swelling under the skin, chest discomfort, shortness of breath, coughing, a bluish discoloration of the skin due to diminished oxygen, rapid heart rate, and low blood pressure.
Signs of an infusion reaction included rash, chills, fatigue, infusion-site burning, infusion-site discomfort, or infusion-site swelling, fever, and high blood pressure. Tell your healthcare professional right away if you experience any reactions. Your healthcare professional may slow or stop the infusion or may lower the next dose. Your healthcare professional may decide to give you antihistamine, anti-fever, and/or steroid medications before your infusions and monitor you for new signs and symptoms of a reaction.
Common Side Effects:
- Common side effects reported in adults and children include back pain, chills, dizziness, fatigue, headache, allergic reactions, nausea, fever, and vomiting.
Please see accompanying Full Prescribing Information, including Boxed WARNING.
Cerezyme® (imiglucerase) for injection is indicated for the treatment of non-central nervous system (CNS) manifestations of Type 1 or Type 3 Gaucher disease in adult and pediatric patients.