In addition to treatment with Cerezyme, there are a variety of therapies and types of support available to help manage the different symptoms of Type 1 Gaucher disease. Treatment will vary depending on the course of your patient’s illness. Below are some of the commonly used techniques to manage the symptoms of Type 1 Gaucher disease.
Skeletal and joint pain
Gaucher patients may experience severe bone pain, called “bone crisis,” thought to be caused, in part, by insufficient blood circulation to the bone due to interference from Gaucher cells. To alleviate discomfort in this population, a variety of techniques and treatments have been used. Analgesics may be used to control acute and chronic bone pain. During bone crises, common analgesics are often insufficient to control pain and opioids may need to be used for a short period of time.Extended bed rest and/or hospitalization may be required. Longstanding bone pathology usually leads to joint destruction as well, which may cause chronic pain. In addition to analgesics, orthopedic intervention may be necessary to control joint pain. These procedures include orthopedic surgical techniques to relieve pressure from damaged bony areas and/or the insertion of prosthetic devices, such as hip replacements, in joints that have been destroyed by the disease process. Gaucher patients may also need to use a cane or wheelchair or undergo physiotherapy exercises to assist with mobility.1,2,3
Osteopenia can be a debilitating complication of Gaucher disease. Certain drugs used to treat osteopenia may increase bone density.
In the past, Gaucher patients with severe low red blood cell counts, severe thrombocytopenia and/or hypersplenism were frequently considered for splenectomy. Today, however, splenectomy is generally not recommended. Splenectomy increases the susceptibility to severe bacterial infections,1 and may lead to increased liver and skeletal symptoms for patients with Gaucher disease. When splenectomy is considered today, it is usually delayed as long as possible and partial splenectomy (which may be more difficult to perform) may be recommended over total splenectomy.2
Mineral or vitamin supplements may be recommended for nutritional deficiencies that affect Gaucher patients. Talk to your doctor to learn more.
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).
Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 2004:41(suppl 5);4-14.
Beutler E, Grabowski G. Gaucher disease. In:Scriber CR, Beaudet AL, Sly WS, et al, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York, NY: McGraw-Hill; 1995; 2:2641-2661.
Kishnani P, Skeletal and Hematologic Pathology of Type 1 Gaucher Disease, Duke University School of Medicine, CME Course, 2008.