Early diagnosis of Gaucher disease is important

Gaucher disease is characterized by variable onset and severity along with symptoms that overlap with other conditions. This may obscure clinical suspicion of the disease. Symptoms should not be ignored, as this progressive condition may lead to future medical complications. Early diagnosis of Gaucher disease may help reduce irreversible complications.1,2

Case studies can underscore diagnostic difficulties of Gaucher disease. Examine the heterogeneous presentation of Gaucher disease.

Because Gaucher type 1 prevalence differs among populations, diagnostic approaches should differ as well. These simple diagnostic algorithms may help you identify when to test for Gaucher disease.

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Identifying Gaucher Disease In Patients Of Ashkenazi Ancestry2

Test for Gaucher disease as a first-line investigation in any patient of Ashkenazi ancestry presenting with splenomegaly and/or thrombocytopenia.

a self-test for Gaucher Disease if you are of Ashkenazi ancestry

Identifying Gaucher Disease In Patients Of Non-Ashkenazi Ancestry2

Consider Gaucher disease in the differential diagnosis:

  • In patients presenting with splenomegaly and thrombocytopenia after ruling out malignancies2. In this setting, bone marrow biopsy is usually performed; it should become routine to search for Gaucher cells as well as for evidence of hematological malignancies. However, bone marrow cytohistological examinations are neither necessary nor sufficient for diagnosing Gaucher disease. A simple enzyme assay must be done to confirm diagnosis3
  • In any patient being considered for splenectomy when the cause of splenomegaly has not been established3
a self-test for Gaucher Disease if you are of non-Ashkenazi ancestry

Greater diagnostic awareness may help patients get the treatment they need. Identify Gaucher disease and test—it’s just a simple blood test.4

Doctor speaking to a patient

Gaucher disease can be managed2,4

Treatment options include oral therapies.2,4

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Woman suffering from disease symptoms

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References:

1. 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.

2. Mistry PK, Cappellini MD, Lukina E, et al. A reappraisal of Gaucher disease-diagnosis and disease management algorithms. Am J Hematol. 2011;86(1):110-115.

3. Weinreb NJ, Rosenbloom BE. Splenomegaly, hypersplenism, and hereditary disorders with splenomegaly. Open Journal of Genetics. 2013;3:24-43.

4. Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017;18(2):ii, E441.