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

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...

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Detalles Bibliográficos
Autores principales: Motta, Irene, Consonni, Dario, Stroppiano, Marina, Benedetto, Christian, Cassinerio, Elena, Tappino, Barbara, Ranalli, Paola, Borin, Lorenza, Facchini, Luca, Patriarca, Andrea, Barcellini, Wilma, Lanza, Federica, Filocamo, Mirella, Cappellini, Maria Domenica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7843616/
https://www.ncbi.nlm.nih.gov/pubmed/33510429
http://dx.doi.org/10.1038/s41598-021-82296-z
Descripción
Sumario: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.