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

Irene Motta, Mirella Filocamo, Erika Poggiali, Marina Stroppiano, A. Dragani, Dario Consonni, Wilma Barcellini, Gianluca Gaidano, Luca Facchini, Giorgina Specchia, Maria Domenica Cappellini

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)352-359
Number of pages8
JournalEuropean Journal of Haematology
Volume96
Issue number4
DOIs
Publication statusPublished - Apr 1 2016

Keywords

  • Dried blood spot
  • Gaucher Disease
  • Splenomegaly
  • Thrombocytopenia
  • β-glucosidase

ASJC Scopus subject areas

  • Hematology

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