Gaucher disease is hereditary and can affect several
members of a family within a single generation.
Gaucher disease is hereditary, which means that the genes for the disease are passed from one generation to the next. A person with just one gene for Gaucher disease is a carrier. Carriers do not develop the disease but can pass the gene on to their children.
Explore the instances of carriers or when Gaucher disease is present below.
If you have received a diagnosis of Gaucher disease, you and your family may want to talk to your doctor or a genetic counselor as there is a greater possibility that sisters, brothers, children, aunts, uncles, and first cousins may also have this disease, even if they do not have symptoms. Family members may be carriers who could pass the gene that causes Gaucher on to their children. Testing is the only way to know if you or family members have Gaucher disease. Get tested. It’s just a simple blood test.
Pan-ethnic, and occurs in ~1 in 40,000
in the general population
More common in people of Ashkenazi
Jewish ancestry
of American Jews are Ashkenazi
Cerezyme® (imiglucerase) for injection is indicated for treatment of adults and pediatric patients 2 years of age and older with Type 1 Gaucher disease that results in one or more of the following conditions:
Hypersensitivity and Infusion-Associated Reactions: Serious allergic reactions (anaphylaxis) have been reported in patients treated with Cerezyme. Symptoms suggestive of an allergic reaction have been reported during or shortly after an infusion and include itching, flushing, hives, swelling, chest discomfort, shortness of breath, coughing, cyanosis (a bluish discoloration of the skin due to diminished oxygen), rapid heart rate, and low blood pressure. Inform your doctor and seek medical care if you experience any of these symptoms. If you have had an allergic reaction to Cerezyme, you and your doctor should use caution if you continue to receive treatment with Cerezyme.
Immune Responses: Approximately 15% of patients have developed immune responses (antibodies) to Cerezyme during the first year of therapy. These patients have a higher risk of an allergic reaction (hypersensitivity). Your doctor may periodically test for the presence of antibodies.
Adverse Reactions:
Adverse reactions reported in adults include back pain, chills, dizziness, fatigue, headache, hypersensitivity reactions, nausea, pyrexia, and vomiting.
Adverse reactions reported in pediatric patients 2 years of age and older are similar to adults.
Please see the Full Prescribing Information.
To report SUSPECTED ADVERSE REACTIONS, contact Sanofi Medical Information at 1-800-745-4447, Option 2.