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LOCAL BIOCHEMISTRY DEPARTMENT
Splenomegaly and thrombocytopenia are the most common symptoms of Gaucher disease.2
A recent Italian study found that in patients presenting with either of these symptoms, as well as at least one other symptom of Gaucher disease, the prevalence rate was found to be 3.6%.1
Simple and effective diagnostic algorithms, such as the Capellini protocol make it easier to identify patients with suspected Gaucher disease.3
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): 110-115.3
As an autosomal recessive disorder, a carrier of Gaucher disease has a 50% chance of having a child which carries the Gaucher gene. If both parents are carriers, there is a 25% chance that the child will be affected with Gaucher disease.
If your patient has an immediate relative who has been diagnosed with Gaucher disease, it is important to order a blood test straight away.
TEST FOR GAUCHER DISEASE AT YOUR LOCAL BIOCHEMISTRY DEPARTMENT
1. Motta I et al, Eur J of Haematol, 2015;96:352-359
2. Charrow J, et al. Arch Intern Med. 2000;160:2835
3. Mistry, PK, et al. Am J Hematol 86(1) 2011: 110-115
4. Mistry P. Clinical Advances in Hematology and Oncology 2012;10:7–9
* Acid Beta-glucosidase enzyme activity assay
** Monoclonal gammopathy of undetermined signficance