Diagnostic Case Study

Case: 14-year-old female1

This study examines the results for one patient and may not be typical. Results vary from patient to patient. 

Past Medical History

  • Early 2004 presents with compression fracture of the medial condyle of the left tibia
  • Condition misdiagnosed as neoplastic bone tumor
    • Based on suspected pathological fracture and bone changes on MRI

Imaging Results

  • MRI: T1-weighted image of the left tibia showing bone changes

    Lukina KA, et al. 1st European Gaucher Leadership Forum. May 2009. Milan, Italy.

  • Bone biopsy: Presence of foam cells with foci of atypical cartilage

    Lukina KA, et al. 1st European Gaucher Leadership Forum. May 2009. Milan, Italy.

Initial Treatment

  • April 2005: Proximal shinbone resection and chemotherapy
  • No reported improvement in condition

Revised Diagnosis

  • November 2005: Type 1 Gaucher disease determined
    • Presence of Gaucher cells, glucocerebrosidase assay, chitotriosidase activity, (a biomarker that reflects disease burden) and bone marrow infiltration
  • February 2006: Patient cachectic and anemic with pronounced hepatosplenomegaly and pancytopenia
  • Hematological, visceral and bone manifestations responded to treatment despite advanced disease progression


  • Presence of bone manifestations of Gaucher disease, in the absence of more common hematologic abnormalities, complicated this diagnosis
  • Hematologic enzyme assay provides a differential diagnosis of type 1 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
  2. thrombocytopenia
  3. bone disease
  4. 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 Sanofi Genzyme at 800-745-4447, option 2

Please see Full Prescribing Information (PDF).


  1. Case: 14-year-old female. Lukina KA, et al. 1st European Gaucher Leadership Forum. May 2009; 1-2. Milan, Italy.