A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia.
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, 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 ± 18.2 years) have been enrolled in the study and tested for β-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 ± 8.2 years, 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.
['Motta|Irene|I|', 'Filocamo|Mirella|M|', 'Poggiali|Erika|E|', 'Stroppiano|Marina|M|', 'Dragani|Alfredo|A|', 'Consonni|Dario|D|', 'Barcellini|Wilma|W|', 'Gaidano|Gianluca|G|', 'Facchini|Luca|L|', 'Specchia|Giorgina|G|', 'Cappellini|Maria Domenica|MD|', '|||']
D000328:Adult D000368:Aged D000465:Algorithms D059788:Dried Blood Spot Testing D042241:Early Diagnosis D005260:Female D005776:Gaucher Disease D006801:Humans D008297:Male D008875:Middle Aged D013163:Splenomegaly D013921:Thrombocytopenia D001617:beta-Glucosidase
Gaucher Disease splenomegaly thrombocytopenia β-glucosidase dried blood spot