Gaucher disease (GD) is the most common lysosomal disorder resulting from deficient activity of the β-glucosidase enzyme, that causes accumulation of glucosylceramide in the macrophage-monocyte system. Notably, because of non-specific symptoms and a lack of awareness, GD patients experience long diagnostic delays. The aim of this study is to apply a diagnostic algorithm in order to identify GD type 1 among adults subjects referred to Italian hematology outpatient units because of splenomegaly and/or thrombocytopenia, and, eventually, to estimate the prevalence of GD in this selected population. Hundred ninety-six subjects (61 females, 135 males; mean age 47.8±18.2 years) have been enrolled in the study and tested for β-glucosidase enzyme activity on Dried Blood Spot (DBS). Seven out of 196 patients have been diagnosed with GD, (5 females and 2 males) with mean age 31.8±8.2 years, with a prevalence of 3.6% (I95% CI1.4-7.2- 1/28 patients) in this population. These results show that the use of an appropriate diagnostic algorithm and a simple diagnostic method, such as DBS, are important tools to facilitate the diagnosis of a rare disease even for not disease-expert physicians.
A multicentre observational study for early diagnosis of Gaucher disease in patients with splenomegaly and/or thrombocytopenia / I. Motta, M. Filocamo, E. Poggiali, M. Stroppiano, A. Dragani, D. Consonni, W. Barcellini, G. Gaidano, L. Facchini, G. Specchia, M. Cappellini. - In: EUROPEAN JOURNAL OF HAEMATOLOGY. - ISSN 1600-0609. - 96:4(2016 Apr), pp. 352-359.
|Titolo:||A multicentre observational study for early diagnosis of Gaucher disease in patients with splenomegaly and/or thrombocytopenia|
CAPPELLINI, MARIA DOMENICA (Corresponding)
|Parole Chiave:||dried blood spot; Gaucher disease; splenomegaly; thrombocytopenia; β-glucosidase|
|Settore Scientifico Disciplinare:||Settore MED/09 - Medicina Interna|
|Data di pubblicazione:||apr-2016|
|Data ahead of print / Data di stampa:||1-giu-2015|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1111/ejh.12596|
|Appare nelle tipologie:||01 - Articolo su periodico|
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