SCREENING OF GAUCHER DISEASE TYPE 1 IN NON-ASHKENAZIC POPULATION ? A PILOT PROJECT IN MORAVIAN-SLESIAN REGION

Background
The patients with Gaucher disease (GD) type 1, although it is the most common lysosomal storage disease, have probably not met the primary care doctors not even once in 10 years. This may cause that GD patients have been passing through the years in a specialized clinic under different diagnosis and they are not being treated properly. With regard to the incidence of GD 1: 60000 in our Moravian-Silesian Region (with approx. 1,3 mil. people), should be 20 persons with GD type 1. But there was only one patient with GD in National Center for the treatment of GD in the Czech Republic till December 2013. Based on a successful pilot project of GD diagnosis that was solved by our colleagues in Italy, under the leadership of prof. Cappellini (*), we decided to implement similar in our conditions. (*) Motta I. et al., A Multicenter Observational Study For Early Diagnosis Of Gaucher Disease In Patients With Splenomegaly and/Or Thrombocytopenia, Poster ASH 2013

Aims
Our aim is to highlight this rare diagnosis, on which we should think more in the differential diagnosis of hepatosplenomegaly and thrombocytopenia, particularly in all the unclear cases.

Methods

We have used Dried Blood Spot (DBS) cards (attached) to detect beta-glucosidase enzyme activity in patients with splenomegaly (palpable spleen or ultrasound examination demonstrated over 12 cm) and/or thrombocytopenia (platelets below 130 x 10/9/l). In the case of thrombocytopenia, at least 1 more condition must be met: the current anemia, MGUS or polyclonal gammopathy, bone pain history, or past history of splenectomy. We excluded individual with criteria: A) known hematological malignancy, B) proven cirrhosis of the liver or hemolytic anemia incl. hemoglobinopathy.

Results
For 10 months (from May 2014 to February 2015) we enrolled 15 patients (9 male, 6 female) from hematology clinics in Moravian-Silesian Region. The reasons for testing were: 27% (4/15) splenomegaly, 27% (4/15) thrombocytopenia and 46% (7/15) both of them. During this period all 15 DBS test were negative, none patient was diagnosed with GD.

Summary
We are continuing to search for the patients with GD to may put these patients the chance of timely and adequate treatment to prevent serious complications and restrictions on their quality of life.

Keyword(s): Gaucher disease, Screening, Spleen, Thrombocytopenia

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