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.
|Titolo:||Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia|
CAPPELLINI, MARIA DOMENICA (Corresponding)
|Settore Scientifico Disciplinare:||Settore MED/09 - Medicina Interna|
Settore MED/15 - Malattie del Sangue
|Data di pubblicazione:||28-gen-2021|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1038/s41598-021-82296-z|
|Appare nelle tipologie:||01 - Articolo su periodico|