Diagnosing Gaucher Disease
If you have signs and symptoms that suggest Type 1 Gaucher disease and are not explained by other causes, your doctor may want to test you for the disease. Your doctor may also recommend testing if you have a family member who has been diagnosed with Type 1 Gaucher disease.
Blood testing
A doctor may diagnose Type 1 Gaucher disease by using a blood test (called an assay) that measures activity levels of the enzyme glucocerebrosidase.
The blood sample may be taken in the doctor’s office and sent to a laboratory for analysis. In healthy people, the test shows white blood cells that contain normal enzyme activity. In people with Type 1 Gaucher disease, the enzyme activity is much lower.
Other tests
Your doctor may also recommend other tests to see how Type 1 Gaucher disease is affecting you, since signs and symptoms vary from one person to another. These tests may include:
- Blood tests that can show problems such as low red blood cell counts or low platelet counts
- X-rays, magnetic resonance imaging (MRI), or computerized tomography (CT scans), to show abnormalities in bone
- MRI or CT scans to measure the liver or spleen
- Quality of life assessments
- Bone marrow biopsy
Genetic testing
Genetic testing, or DNA analysis of a blood sample, can determine whether you carry a Gaucher gene. People who are at risk of being carriers who may want to consider genetic counseling and family DNA testing include relatives of Gaucher disease patients, people of Ashkenazi Jewish descent, and those with symptoms. Go to Gaucher Disease to learn more about Gaucher disease heredity.
Where to get tested
Getting tested is as easy as getting a blood test. Your doctor can take a blood sample and send it to an appropriate laboratory for enzyme assay or DNA analysis. You may also be interested in locating a treatment center with doctors who specialize in Type 1 Gaucher disease. Find a Treatment Center »
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). These patients have a higher risk of an allergic reaction (hypersensitivity). Use Cerezyme® (imiglucerase for injection) carefully if you have had an allergic reaction to the product in the past. Symptoms suggestive of allergic reaction happened in 6.6% of patients, and include anaphylactoid reaction (a serious allergic reaction), itching, flushing, hives, an accumulation of fluid under the skin, chest discomfort, shortness of breath, coughing, cyanosis (a bluish discoloration of the skin due to diminished oxygen), and low blood pressure.
Side effects related to Cerezyme administration have been reported in less than 15% of patients. Each of the following events occurred in less than 2% of the total patient population. Reported side effects include nausea, abdominal pain, vomiting, diarrhea, rash, fatigue, headache, fever, dizziness, chills, backache, and rapid heart rate. Because Cerezyme therapy is administered by intravenous infusion, reactions at the site of injection may occur: discomfort, itching, burning, swelling or uninfected abscess. Cerezyme is available by prescription only. For more information, consult your physician.
Please see Full Prescribing Information (PDF).