Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia
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, Francesca Farina, Katia Codeluppi, Elena Rivolti, Federico Simonetti, Francesca Lunghi, Tommasina Perrone, Nicola Sgherza, Valentina Carrai, Anna Maria Cafro, Roberto Cairoli, Angela Amendola, Elena Trabacchi, Daniele Vallisa, Ilaria Burgo, Augusto B. Federici, Cecilia Carbone, Mariella D’Adda, Donato Mannina, Valeria Di Giacomo, Giulia Lupparelli, Alessandra Lombardo
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.