Send to

Choose Destination
Eur J Haematol. 2016 Apr;96(4):352-9. doi: 10.1111/ejh.12596. Epub 2015 Jun 11.

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

Author information

Department of Medicine and Medical Specialities, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto Giannina Gaslini, Genoa, Italy.
Department of Hematology, Ospedale Civile Spirito Santo, Pescara, Italy.
Epidemiology Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
Hematology and Bone Marrow Transplant Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
SCDU Ematologia, Dipartimento di Medicina Traslazionale, Università del Piemonte Orientale Amedeo Avogadro, Novara, Italy.
Hematology Unit, AO S. Maria Nuova, IRCCS, Reggio Emilia, Italy.
Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, Bari, Italy.


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.


Gaucher Disease; dried blood spot; splenomegaly; thrombocytopenia; β-glucosidase

[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center