title: A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia.
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.
authors.affiliation: 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.
authors.forename: Irene
authors.initials: I
authors.lastname: Motta
authors.affiliation: Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: Mirella
authors.initials: M
authors.lastname: Filocamo
authors.affiliation: 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.
authors.forename: Erika
authors.initials: E
authors.lastname: Poggiali
authors.affiliation: Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto Giannina Gaslini, Genoa, Italy.
authors.forename: Marina
authors.initials: M
authors.lastname: Stroppiano
authors.affiliation: Department of Hematology, Ospedale Civile Spirito Santo, Pescara, Italy.
authors.forename: Alfredo
authors.initials: A
authors.lastname: Dragani
authors.affiliation: Epidemiology Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Dario
authors.initials: D
authors.lastname: Consonni
authors.affiliation: Hematology and Bone Marrow Transplant Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
authors.forename: Wilma
authors.initials: W
authors.lastname: Barcellini
authors.affiliation: SCDU Ematologia, Dipartimento di Medicina Traslazionale, Università del Piemonte Orientale Amedeo Avogadro, Novara, Italy.
authors.forename: Gianluca
authors.initials: G
authors.lastname: Gaidano
authors.affiliation: Hematology Unit, AO S. Maria Nuova, IRCCS, Reggio Emilia, Italy.
authors.forename: Luca
authors.initials: L
authors.lastname: Facchini
authors.affiliation: Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, Bari, Italy.
authors.forename: Giorgina
authors.initials: G
authors.lastname: Specchia
authors.affiliation: 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.
authors.forename: Maria Domenica
authors.initials: MD
authors.lastname: Cappellini
mesh_terms: D000328:Adult; D000368:Aged; D000465:Algorithms; D059788:Dried Blood Spot Testing; D042241:Early Diagnosis; D005260:Female; D005776:Gaucher Disease / Q000097:blood / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008297:Male; D008875:Middle Aged; D013163:Splenomegaly / Q000097:blood / Q000150:complications / Q000175:diagnosis*; D013921:Thrombocytopenia / Q000097:blood / Q000150:complications / Q000175:diagnosis*; D001617:beta-Glucosidase / Q000097:blood* / Q000172:deficiency
chemical_list: D001617:beta-Glucosidase
keywords: Gaucher Disease; dried blood spot; splenomegaly; thrombocytopenia; β-glucosidase