A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia

作者：Motta Irene; Filocamo Mirella; Poggiali Erika; Stroppiano Marina; Dragani Alfredo; Consonni Dario; Barcellini Wilma; Gaidano Gianluca; Facchini Luca; Specchia Giorgina; Cappellini Maria Domenica^*

来源：European Journal of Haematology, 2016, 96(4): 352-359.

DOI：10.1111/ejh.12596

• Gaucher Disease
• dried blood spot
• -glucosidase
• splenomegaly
• thrombocytopenia

Gaucher disease (GD) is the most common lysosomal disorder resulting from deficient activity of the -glucosidase enzyme that causes accumulation of glucosylceramide in the macrophage-monocyte system. Notably, because of non-specific symptoms and a lack of awareness, patients with GD experience long diagnostic delays. The aim of this study was to apply a diagnostic algorithm to identify GD type 1 among adults subjects referred to Italian haematology outpatient units because of splenomegaly and/or thrombocytopenia and, eventually, to estimate the prevalence of GD in this selected population. One hundred and ninety-six subjects (61 females, 135 males; mean age 47.8 +/- 18.2years) have been enrolled in the study and tested for -glucosidase enzyme activity on dried blood spot (DBS). Seven of 196 patients have been diagnosed with GD, (5 females and 2 males) with mean age 31.8 +/- 8.2years, with a prevalence of 3.6% (with a prevalence of 3.6% (I95% CI 1.4-7.2; 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.