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IMPORTANT SAFETY INFORMATION: 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. Serious allergic reactions (anaphylaxis) have been reported in less than 1% of patients... View more

How is
Gaucher
Disease
Inherited?

Gaucher disease type 1 is hereditary and can affect several
members of a family within a single generation.

Gaucher inheritance

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

Family testing

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.

Gaucher disease type 1 can affect individuals of any ethnicity

  • In fact, the incidence of Gaucher disease in the Ashkenazi population is higher than the incidence of blood cancers, which is about ~1 in 2,500
  • In patients of Ashkenazi Jewish heritage ~1 in 15 is a carrier
GD1 is pan-ethnic, and occurs in 1 in 40,000 in the general population

Pan-ethnic, and occurs in ~1 in 40,000
in general population

GD1 is more common in people of Ashkenazi Jewish ancestry

More common in people of Ashkenazi
Jewish ancestry

90% American Jews are Ashkenazi

American Jews are Ashkenazi

Testing for Gaucher disease

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Early diagnosis is important for managing Gaucher disease

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Indication & Usage

Cerezyme® (imiglucerase for injection) is indicated for long-term enzyme replacement therapy for pediatric and adult patients with a confirmed diagnosis of Type 1 Gaucher disease that results in one or more of the following conditions:

  • anemia (low red blood cell count)
  • thrombocytopenia (low blood platelet count)
  • bone disease
  • hepatomegaly or splenomegaly (enlarged liver or spleen)

Important Safety Information

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. Serious allergic reactions (anaphylaxis) have been reported in less than 1% of patients. Symptoms suggestive of allergic reaction happened in approximately 7% of patients, and include itching, flushing, hives, swelling, chest discomfort, shortness of breath, coughing, cyanosis (a bluish discoloration of the skin due to diminished oxygen), and low blood pressure. If you have had an allergic reaction to Cerezyme, you and your doctor should use caution if you continue to receive treatment with Cerezyme.

High blood pressure in the arteries of the lungs (pulmonary hypertension) and pneumonia have been observed in less than 1% of patients during treatment with Cerezyme. These are also known complications of Gaucher disease regardless of treatment. If you experience symptoms such as shortness of breath or chest pain, with or without fever, contact your doctor.

Approximately 14% of patients have experienced side effects related to treatment with Cerezyme. Some of these reactions occur at the site of injection such as discomfort, itching, burning, swelling or uninfected abscess. Other side effects, each of which was reported by less than 2% of patients, include nausea, abdominal pain, vomiting, diarrhea, rash, fatigue, headache, fever, dizziness, chills, backache, and rapid heart rate. Temporary swelling in the legs has also been observed with drugs like Cerezyme.

Please see Full Prescribing Information (PDF).