- Article
- Source: Campus Sanofi
- 10 Oct 2025
Diagnosis of Gaucher disease
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
In a 2007 study, 136 Gaucher patients from the US, Australia and New Zealand were surveyed. In Australia and New Zealand, 73% or 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% of haematologists do not consider Gaucher disease in their differential diagnosis.
86% were seen by a haematologist-oncologist in pursuit of a diagnosis in the US.
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
References
- Mistry PK, et al. Am J Hematol 2011. 86(1):110–115.
- Mistry PK, et al. Am J Hematol 2007. 82:697–701.
- Gaucher registry annual report. Genzyme Corp. 2006.
- Motta I, et al. Eur J of Haematol 2015. 96:352–359.
MAT-XU-2504632 (v1.0) Date of preparation: November 2025