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Early diagnosis is key

The early diagnosis and treatment of Gaucher disease are essential to prevent or reverse severe disease complications.1,2 However, when Gaucher is missed, a patient can remain untreated for up to 10 years.2

If left untreated, Gaucher disease can lead to:1,2

  • Premature death from bleeding complications
  • Pulmonary hypertension
  • Liver disease
  • Sepsis
  • Growth failure
  • Complications arising from advanced bone disease
  • Impact on quality of life

Haematologists play a pivotal role in diagnosis. In a survey of 136 Gaucher patients in the US, Australia and New Zealand:2

  • 86% were seen by a haematologist-oncologist in pursuit of a diagnosis in the US

In Australia and New Zealand, 73% of patients were seen by a haematologist-oncologist to obtain a diagnosis. However, a survey of over 400 haematology-oncologists in the US, Australia and New Zealand revealed that:2

  • 80% do not consider Gaucher disease in their differential diagnosis.



Splenomegaly and thrombocytopenia are common symptoms of Gaucher disease.3

A recent Italian study found that in patients presenting with either of these symptoms, in addition to one other specified ancillary sign of Gaucher disease, the prevalence rate of Gaucher Type 1 was found to be 3.6%.4

Simple and effective diagnostic algorithms, such as the Cappellini protocol, make it easier to identify patients with suspected Gaucher disease.1

Diagnostic algorithm for Gaucher disease type 1 in individuals of non-ashkenazi Jewish origin

Figure adapted from Mistry, P. K., et al. 2011. Am J Hematol 86(1): 110–115.1

* Acid-β-glucosidase enzyme activity assay
** Monoclonal gammopathy of undetermined significance

  1. Mistry PK, et al. Am J Hematol 2011. 86(1):110–115.
  2. Mistry PK, et al. Am J Hematol 2007. 82:697–701.
  3. Gaucher registry annual report. Genzyme Corp. 2006.
  4. Motta I, et al. Eur J of Haematol 2015. 96:352–359.

MAT-XU-2201104 (v2.0) Date of preparation: October 2023