Onset may occur at any age
Patients may present with only one or some of the symptoms
The nature and severity of some symptoms may fluctuate as disease progresses
Gaucher disease type 1 often mimics the signs and symptoms of many hematological malignancies. It also may display inactive periods interrupted by episodes of acute crises or evidence of disease advancement.3,4 Patients may appear to be asymptomatic, yet harbor mild disease manifestations such as cytopenia, splenomegaly, or osteopenia.5
Cytopenias are nearly universal in untreated GD1 patients6
Thrombocytopenia, resulting from hypersplenism, splenic pooling, or marrow infiltration/infarction.6
Anemia, resulting from hypersplenism, hemodilution, iron deficiency, or vitamin B12 deficiency, and in advanced cases, decreased erythropoiesis resulting from bone marrow failure due to Gaucher cell infiltration or medullary infarction.6
Coagulation abnormalities, arising from coagulation factor deficiencies6
94% of patients with Gaucher disease type 1 in the Gaucher Registry had radiologic evidence of bone disease at diagnosis7
Skeletal involvement is often the most debilitating aspect of Gaucher disease type 1.6 Symptoms of bone pain and pathologic fractures are also associated with bone malignancy, which a bone marrow aspirate can help rule out. 8,9 Many patients, including those under the age of 10, present with bone-related symptoms.10
Hematologists play a pivotal role in identifying and diagnosing Gaucher disease type 1 patients. Up to 86% of patients are seen by a hematologist/oncologist in pursuit of a diagnosis.11
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