Importance of Early Diagnosis

Type 1 Gaucher disease is a progressive, debilitating disease that may worsen over time. A patient with Gaucher disease may experience diagnostic delays up to 10 years which could impact disease progression.

Recognizing Early Symptoms

One reason diagnosis and treatment may be delayed is that some signs and symptoms of Type 1 Gaucher disease are similar to other, more common diseases, so patients may be misdiagnosed. For example, joint pain may be diagnosed as arthritis or growing pains. Low levels of red blood cells or platelets may at first be diagnosed as a blood disorder. Other misdiagnoses may include:

  • Leukemia (a cancer of the blood or bone marrow)
  • Lymphoma (a cancer in the lymphatic cells of the immune system)
  • Bleeding disorders
  • Osteomyelitis (infection of the bone)

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.