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 an altered gene. People who are at risk of being carriers and 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.

Getting Tested

Gaucher disease is diagnosed with a simple blood test. Your doctor can take a blood sample and send it to an appropriate laboratory for enzyme assay or DNA analysis. Speak to your doctor if you are interested in getting tested for Gaucher disease.


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:

  1. anemia (low red blood cell count)
  2. thrombocytopenia (low blood platelet count)
  3. bone disease
  4. 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).

You may report side effects to the FDA at 1-800-FDA-1088.

Reference 1. Data on file. Genzyme Corporation; Cambridge, MA.