Gaucher disease type 1 is hereditary and can affect several
members of a family within a single generation.
Both males and females are affected equally and the probability of having a child with Gaucher disease type 1 does not change,no matter how many children the parents have.
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 general population
More common in people of Ashkenazi
American Jews are Ashkenazi
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:
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).