Symptoms are diverse and variable, and progression can be unpredictable1

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

Splenomegaly and/or thrombocytopenia are among the two most prominent and frequent presenting symptoms of Gaucher disease type 1.2

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

Diagram of the human body showing the location of the spleen and liver

The spleen is enlarged6

  • Splenomegaly associated with pancytopenia
  • Spleen infarction with accompanying acute abdominal pain

Liver enlargement is also common, but hepatic failure is rare6

Pulmonary findings include:6

  • Interstitial lung disease
  • Alveolar or lobar consolidation
  • Pulmonary hypertension
Diagram of the human body showing the heart and major arteries and veins


Cytopenias are nearly universal in untreated GD1 patients6


Thrombocytopenia, resulting from hypersplenism, splenic pooling, or marrow infiltration/infarction.6

  • Easy bruising or bleeding may occur


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

Coagulation abnormalities, arising from coagulation factor deficiencies6

Diagram of the human body showing the skeleton

94% of patients with Gaucher disease type 1 in the Gaucher Registry had radiologic evidence of bone disease at diagnosis7

At time of diagnosis, many patients can present with…7

  • Bone marrow infiltration
  • Erlenmeyer flask deformity
  • Pathologic fracture
  • Osteopenia
  • Osteonecrosis

As the disease progresses, patients additionally may develop…6

  • Focal lytic or sclerotic lesions
  • Joint collapse with secondary degenerative arthritis
  • “Bone crisis”: episodes of deep bone pain, often with fever and leukocytosis
  • Neurologic complications secondary to bone disease (i.e., osteopenia with vertebral compression, emboli following long bone fracture)

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

Greater diagnostic awareness may help patients get the treatment they need. Identify Gaucher disease and test—it’s just a simple blood test.5

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

Gaucher disease signs and symptoms commonly mimic many hematologic malignancies5,12-26

Table showing how Gaucher disease signs and symptoms commonly mimic many hematologic malignancies
Diagram of the body with the spleen highlighted

Splenomegaly / thrombocytopenia?

No hematologic malignancies? It could be Gaucher.

Doctor speaking to a patient

Gaucher disease can be managed2,5

Treatment options include oral therapies.2,5



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3. Mistry PK, Sadan S, Yang R, et al. Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists–oncologists and an opportunity for early diagnosis and intervention. Am J Hematol . 2007;82(8):697-701.

4. Mistry PK, Weinthal JA, Weinreb NJ. Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion. Clin Adv Hematol Onc. 2012;10(6):1-16.

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25. Thiele J, Kvasnicka HM, Schmitt-Graeff AS, et al. Effects of the tyrosine kinase inhibitor Imatinib mesylate (STI571) on bone marrow features in patients with chronic myelogenous leukemia. Histol Histopathol. 2004;19:1277-1288.

26. Shah D. Multiple Myeloma Clinical Presentation. Medscape.