The following recommended goals are based upon composite information obtained from the Gaucher Registry. Patient responses may vary and physicians should use their own medical judgment in applying these recommendations in the care of their patients.

Bone Disease
Anemia
Thrombocytopenia
Hepatomegaly
Splenomegaly

Splenomegaly

Splenomegaly is defined as a splenic mass greater than the normal 0.2% of total body weight in kilograms. Spleen enlargement is considered moderate if >5 times normal but ≤15 times normal; the enlargement is considered severe if the spleen volume exceeds 15 times the normal volume. The pretreatment spleen volume exceeds 5 multiples of normal in about 90% of all symptomatic nonsplenectomized patients with type 1 disease.

Gaucher Registry data reflect substantial decreases in spleen volume in patients with either moderate or severe pretreatment splenomegaly with enzyme replacement therapy. Overall, splenomegaly decreased by 30% to 50% within 12 months and by 50% to 60% over 2 to 5 years. Responses were influenced by pretreatment volume. Fewer patients with severe splenomegaly than with moderate enlargement achieved < 5 times normal volume.

Therapeutic goals for patients with splenomegaly, therefore, are to reduce spleen volume to ≤2 to 8 times normal and alleviate discomfort due to splenic enlargement (abdominal distension, early satiety). Additional goals focus on alleviating abdominal pain due to recurrent episodes of splenic infarction and hypersplenism.

Volume normalization is not expected in patients with severe baseline splenomegaly. Indeed, many patients will have some residual enlargement with long-term treatment, probably as a result of pre-existing postinfarction fibrotic scars or nodule formation.

For more information about splenomegaly, please contact Genzyme Medical Information at 1-800-745-4447.

Important Safety Information

Adverse reactions related to Cerezyme® (imiglucerase for injection) 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, vomiting, abdominal pain, 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 of venipuncture. Symptoms suggestive of hypersensitivity include anaphylactoid reaction, pruritus, flushing, urticaria, angioedema, chest discomfort, dyspnea, coughing, cyanosis and hypotension. Approximately 15% of patients have developed IgG antibodies; periodic monitoring is suggested. Side effects should be reported promptly to Genzyme Medical Information at 800-745-4447, option 2. To learn more, please see full product information (PDF), or contact Genzyme at 1-800-745-4447.

Weinreb NJ, Charrow J, Andersson HC, et al. Effectiveness of enzyme replacement therapy in 1,028 patients with type 1 Gaucher disease after 2-5 years of treatment: a report from the Gaucher Registry. Am J Med. 2002; 113:112-119 .

Rosenthal DI, Doppelt SH, Mankin HJ, et al. Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics. 1995;96:629-637.

Charrow J, Andersson HC, Kaplan P, et al. The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000; 160:2835-2843.

Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41(4 suppl 5):4-14.

Hill SC, Reinig JW, Barranger JA, et al. Gaucher disease: sonographic appearance of the spleen. Radiology. 1986;160:631-634.