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

Conclusion

• 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, and these patients have a higher risk of hypersensitivity reaction. Therefore periodic monitoring is suggested; caution should be exercised in patients with antibodies or prior symptoms of hypersensitivity. Symptoms suggestive of hypersensitivity occurred in 6.6% of patients, and include anaphylactoid reaction, pruritus, flushing, urticaria, angioedema, chest discomfort, dyspnea, coughing, cyanosis and hypotension.

Reactions related to Cerezyme administration have been reported in less than 15% of patients. Each of the following events occurred in less than 2% of the total patient population. Reported adverse events include nausea, abdominal pain, vomiting, diarrhea, rash, fatigue, headache, fever, dizziness, chills, backache, and tachycardia. Adverse events associated with the route of administration include discomfort, pruritus, burning, swelling or sterile abscess at the site at the site of injection.

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).