Hematologists are frequently involved in the diagnostic pathway of Gaucher disease type 1 (GD1) patients since they present several hematological signs. However, GD1 is mainly underdiagnosed because of a lack of awareness. In this multicenter study, we combine the use of a diagnostic algorithm with a simple test (β-glucosidase activity on Dried Blood Spot) in order to facilitate the diagnosis in a population presenting to the hematologist with splenomegaly and/or thrombocytopenia associated with other hematological signs. In this high-risk population, the prevalence of GD1 is 3.3%. We propose an equation that predicts the probability of having GD1 according to three parameters that are routinely evaluated: platelet count, ferritin, and transferrin saturation.

Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia / I. Motta, D. Consonni, M. Stroppiano, C. Benedetto, E. Cassinerio, B. Tappino, P. Ranalli, L. Borin, L. Facchini, A. Patriarca, W. Barcellini, F. Lanza, M. Filocamo, M.D. Cappellini. - In: SCIENTIFIC REPORTS. - ISSN 2045-2322. - 11:1(2021 Jan 28), pp. 2594.1-2594.6.

Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia

I. Motta;M.D. Cappellini
2021

Abstract

Hematologists are frequently involved in the diagnostic pathway of Gaucher disease type 1 (GD1) patients since they present several hematological signs. However, GD1 is mainly underdiagnosed because of a lack of awareness. In this multicenter study, we combine the use of a diagnostic algorithm with a simple test (β-glucosidase activity on Dried Blood Spot) in order to facilitate the diagnosis in a population presenting to the hematologist with splenomegaly and/or thrombocytopenia associated with other hematological signs. In this high-risk population, the prevalence of GD1 is 3.3%. We propose an equation that predicts the probability of having GD1 according to three parameters that are routinely evaluated: platelet count, ferritin, and transferrin saturation.
Settore MED/09 - Medicina Interna
Settore MED/15 - Malattie del Sangue
Article (author)
File in questo prodotto:
File Dimensione Formato  
MottaI_ScientificReports_2021.pdf

accesso aperto

Tipologia: Publisher's version/PDF
Dimensione 1.03 MB
Formato Adobe PDF
1.03 MB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/810918
Citazioni
  • ???jsp.display-item.citation.pmc??? 6
  • Scopus 5
  • ???jsp.display-item.citation.isi??? 6
social impact