Importance of Early Diagnosis
Type 1 Gaucher disease is a progressive, often debilitating, multisystemic disorder. While Cerezyme has been shown to improve many of the signs and symptoms of Type 1 Gaucher disease,1 some debilitating and disabling manifestations may become irreversible if treatment is delayed. For instance, it has been observed in Registry data that bone pain and bone crises improved with treatment.1 However, advanced liver disease may become irreversible; advanced anemia and thrombocytopenia may show some improvement, but often do not normalize.
In addition, some manifestations of Gaucher disease respond more slowly to treatment than others. For instance, it has been observed in Registry data that increases in bone mineral density occurred more slowly than hematological or visceral improvements.3 Near normal BMD was seen after two years in children4 and eight years in adults.3
Recognizing Early Symptoms
One reason diagnosis and treatment may be delayed is that some manifestations of Gaucher disease are similar to those of other, more common diseases, so patients may be misdiagnosed. For example, joint pain may be attributed to 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:5
- Bleeding disorders
Clusters of signs and symptoms in two or more organ systems often suggest an underlying genetic disorder.
If you suspect Gaucher disease, early diagnosis and treatment are critical to ensure optimal outcomes. Please see Diagnosing Gaucher Disease for more information.
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:
- bone disease
- hepatomegaly or splenomegaly
Important Safety Information
Approximately 15% of patients have developed IgG antibodies to Cerezyme during the first year of therapy. Approximately 46% of patients with detectable IgG antibodies experienced symptoms of hypersensitivity, and these patients have a higher risk of hypersensitivity. It is suggested that patients be monitored periodically for IgG antibody formation during the first year of treatment.
Hypersensitivity has also been observed in patients without detectable IgG antibodies. Symptoms suggestive of hypersensitivity have been noted in approximately 6.6% of all patients, and anaphylactoid reactions in less than 1%. Treatment with Cerezyme should be approached with caution in patients who have exhibited hypersensitivity symptoms such as pruritus, flushing, urticarial, angioedema, chest discomfort, dyspnea, coughing, cyanosis, and hypotension. Pre-treatment with antihistamines and/or corticosteroids and a reduced rate of infusion may allow continued treatment in most patients.
In less than 1% of patients, pulmonary hypertension and pneumonia have been observed during treatment with Cerezyme. These are known complications of Gaucher disease regardless of treatment. Patients with respiratory symptoms in the absence of fever should be evaluated for the presence of pulmonary hypertension.
Approximately 13.8% of patients have experienced adverse events related to treatment with Cerezyme. Some of these are injection site reactions such as discomfort, pruritus, burning, swelling or sterile abscess at the site at the site of venipuncture. Additional adverse reactions that have been reported include nausea, abdominal pain, vomiting, diarrhea, rash, fatigue, headache, fever, dizziness, chills, backache, and tachycardia. Transient peripheral edema has also been reported for this therapeutic class of drug.
To report suspected adverse reactions, contact Genzyme at 800-745-4447, option 2 or FDA at 800-FDA-1088 or http://www.fda.gov/Safety/MedWatch
Please see Full Prescribing Information (PDF).
Weinreb NJ, Charrow J, Andersson HC, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher registry. Am J Med. 2002;113:112-119.
Sims KB, Pastores GM, et al.. Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study. Clin Genet 200875(3):430-40.
Wenstrup RJ, Kacena KA, Kaplan P, Pastores GM, Prakash-Cheng A, et al. Effect of enzyme replacement therapy with Imiglucerase on BMD in type 1 Gaucher disease. J Bone Miner Res 2007;21:119-126.
Bembi B, Ciana G, et al.Bone complications in children with Gaucher disease. Br J Radiol, Supplement 1 2002; A37–A43.
Grabowski GA. Lysosomal storage diseases. In: Braunwald E, Fauci AS, eds. Harrison's Principles of Internal Medicine. 15th ed. New York, NY: McGraw-Hill; 2001:2276-2281.