Thank you for expressing an interest to find out further information about Type 1 Gaucher disease
As a healthcare professional working in Haematology, you can play a key role in the diagnosis of Gaucher Disease. Due to the lack of specificity of symptoms, the diagnosis of Gaucher Disease is often delayed. A retrospective review of a single cohort of 86 patients with Type 1 Gaucher disease, found the median time period from onset of symptoms to diagnosis to be two years, but it can be much longer. About one fifth of patients experienced a delay in diagnosis of five or more years.1
Have you diagnosed a Gaucher Patient yet?
Look for commonly associated signs of type 1 Gaucher disease. In a cohort of 86 patients with Type 1 Gaucher disease at a UK centre, a retrospective case notes review found 45 patients had a more complete clinical and laboratory assessment documented at time of initial presentation. From these 45 patients1.
Gaucher disease can be ruled out using an enzyme assay in leucocytes2
Takeda have a dedicated Diagnostic Support Team who can provide more information and support on:
- Where Gaucher disease may be a differential diagnosis in your patients
- How to access testing for Gaucher Disease
- Guidance on local implementation of screening protocols
Complete your information in the form shown to arrange a time to speak with a member of the Diagnostic Support Team
Louise Brooking
Diagnostic Support Partner, Takeda UK
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REFERENCES
1. Thomas AS et al. Blood Cells Mol Dis 2013;50(3):212–7
2. Vellodi A, et al. Paediatric Gaucher disease in England: Guidelines for assessment, monitoring and enzyme replacement therapy; March 2011