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

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 algori...

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Autores principales:	Irene Motta, Dario Consonni, Marina Stroppiano, Christian Benedetto, Elena Cassinerio, Barbara Tappino, Paola Ranalli, Lorenza Borin, Luca Facchini, Andrea Patriarca, Wilma Barcellini, Federica Lanza, Mirella Filocamo, Maria Domenica Cappellini, Splenomegaly Gaucher group
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/b22675ddb7324d238338d5c54148d366
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spelling	oai:doaj.org-article:b22675ddb7324d238338d5c54148d3662021-12-02T13:57:38ZPredicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia10.1038/s41598-021-82296-z2045-2322https://doaj.org/article/b22675ddb7324d238338d5c54148d3662021-01-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-82296-zhttps://doaj.org/toc/2045-2322Abstract 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.Irene MottaDario ConsonniMarina StroppianoChristian BenedettoElena CassinerioBarbara TappinoPaola RanalliLorenza BorinLuca FacchiniAndrea PatriarcaWilma BarcelliniFederica LanzaMirella FilocamoMaria Domenica CappelliniSplenomegaly Gaucher groupNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-6 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Irene Motta Dario Consonni Marina Stroppiano Christian Benedetto Elena Cassinerio Barbara Tappino Paola Ranalli Lorenza Borin Luca Facchini Andrea Patriarca Wilma Barcellini Federica Lanza Mirella Filocamo Maria Domenica Cappellini Splenomegaly Gaucher group Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia
description	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.
format	article
author	Irene Motta Dario Consonni Marina Stroppiano Christian Benedetto Elena Cassinerio Barbara Tappino Paola Ranalli Lorenza Borin Luca Facchini Andrea Patriarca Wilma Barcellini Federica Lanza Mirella Filocamo Maria Domenica Cappellini Splenomegaly Gaucher group
author_facet	Irene Motta Dario Consonni Marina Stroppiano Christian Benedetto Elena Cassinerio Barbara Tappino Paola Ranalli Lorenza Borin Luca Facchini Andrea Patriarca Wilma Barcellini Federica Lanza Mirella Filocamo Maria Domenica Cappellini Splenomegaly Gaucher group
author_sort	Irene Motta
title	Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia
title_short	Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia
title_full	Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia
title_fullStr	Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia
title_full_unstemmed	Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia
title_sort	predicting the probability of gaucher disease in subjects with splenomegaly and thrombocytopenia
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/b22675ddb7324d238338d5c54148d366
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Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia

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