Rationale for Therapeutic Goals Initiative

Gaucher disease is a chronic, multisystemic condition that is highly heterogeneous with respect to organ system involvement, severity, and rate of progression.

Because Gaucher disease is so variable, management of patients with Gaucher disease cannot be homogeneous. A “one size fits all” approach is not useful. Patients with Gaucher disease require individualized therapy.

A patient-centered, goal-oriented approach is key to working towards optimal outcomes for patients with Gaucher disease.

Gaucher Disease – Heterogeneous and Chronic

Gaucher disease is heterogeneous with respect to organ system involvement, presentation, and rate of progression. In patients with type 1 (nonneuronopathic) Gaucher disease, the clinical course and life expectancy is considerably more variable than in type 2 (acute neuronopathic) or type 3 (chronic or subacute neuronopathic) Gaucher disease. The spectrum ranges from fulminant disease presenting in childhood to an indolent, asymptomatic disorder that may not be discovered until the patient is elderly (although the latter is rare). However, although the clinical onset of type 1 Gaucher disease can occur at any age, a phenotype that manifests in childhood or adolescence is typically more aggressive and severe with a more rapid rate of progression compared with one of later onset. For type 1 Gaucher disease, death can occur at any point from childhood through to old age.

Gaucher disease is progressive, albeit at different rates, and symptomatic patients may die prematurely due to sequelae including bone disease and spleen or liver damage.

Disease progression may be inexorable, or may be slow and erratic, punctuated by periods of rapid exacerbation and clinical crises interspersed with sometimes lengthy periods of quiescence lasting for months or even many years.

Gaucher Disease impact on Organs/Tissues

Type 1 Gaucher Disease can impact multiple organs and tissues. The organ systems affected by type 1 Gaucher disease are discussed below.

Accumulation of lipid engorged macrophages, which are called ‘Gaucher cells,’ in the liver and spleen sometimes cause massive hepatosplenomegaly. Hypersplenism is associated with cytopenias such as anemia and thrombocytopenia. Visceral manifestations can also result in severe enlargement of the abdomen, associated with abdominal discomfort or pain and early satiety.

View animation on how Gaucher disease affects cells

Gaucher cells can cause serious skeletal pathologies that may result in acute and chronic bone pain or bone crises, deformity, osteoporosis, osteopenia, osteonecrosis, or fractures. When the skeleton is affected in a child who is not fully grown, growth is often impaired.

Accumulation of pathologic macrophages may result in pulmonary complications such as pulmonary hypertension and interstitial lung disease.

Finally, the hematologic, visceral, skeletal, and pulmonary manifestations may have a negative impact on patients’ quality of life.

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.

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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.