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

• Published in: Scientific reports Vol. 11; no. 1; pp. 2594 - 6
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 28.01.2021; Nature Publishing Group; Nature Portfolio
• Subjects: 692/699; 692/699/1541; Ferritin; Gaucher's disease; Hematology; Humanities and Social Sciences; multidisciplinary; Science; Science (multidisciplinary); Splenomegaly; Thrombocytopenia; Transferrins; β-Glucosidase
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-021-82296-z

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.