Type 1 Gaucher disease is heterogeneous, presenting with a wide array of signs and symptoms throughout the body, although the skeletal pathologies associated with bone marrow infiltration can be particularly painful and debilitating. These signs and symptoms may be classified by four key anatomical compartments: visceral, hematologic, skeletal, and metabolic. Physicians may find these groupings useful in narrowing the diagnostic investigation and ordering appropriate tests.

Since these signs and symptoms also appear with many other conditions, physicians may not always immediately consider Gaucher disease[1] in diagnosing, often creating an interval between symptom onset and diagnosis.^[2]

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1. Beutler E, Grabowski G. Gaucher disease. In:Scriber CR, Beaudet AL, Sly WS, et al, eds. The Metabolic and Molecular Bases of Inherited Disease. 7^th ed. New York, NY: McGraw-Hill; 1995;2:2641-2661.

2. Data on file, Genzyme Corporation.