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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

1
Department of Medicine and Medical Specialities, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
2
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
3
Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto Giannina Gaslini, Genoa, Italy.
4
Department of Hematology, Ospedale Civile Spirito Santo, Pescara, Italy.
5
Epidemiology Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
6
Hematology and Bone Marrow Transplant Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
7
SCDU Ematologia, Dipartimento di Medicina Traslazionale, Università del Piemonte Orientale Amedeo Avogadro, Novara, Italy.
8
Hematology Unit, AO S. Maria Nuova, IRCCS, Reggio Emilia, Italy.
9
Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, Bari, Italy.

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.

KEYWORDS:

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

PMID:
26033455
DOI:
10.1111/ejh.12596
[Indexed for MEDLINE]

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