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.

Motta, I., Consonni, D., Stroppiano, M., Benedetto, C., Cassinerio, E., Tappino, B., et al. (2021). Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia. SCIENTIFIC REPORTS, 11(1) [10.1038/s41598-021-82296-z].

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

Cairoli R;
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.
Articolo in rivista - Articolo scientifico
Adult; Algorithms; beta-Glucosidase; Female; Gaucher Disease; Humans; Male; Middle Aged; Splenomegaly; Thrombocytopenia
English
2021
11
1
2594
open
Motta, I., Consonni, D., Stroppiano, M., Benedetto, C., Cassinerio, E., Tappino, B., et al. (2021). Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia. SCIENTIFIC REPORTS, 11(1) [10.1038/s41598-021-82296-z].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/405076
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