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
General Medicine Unit, Rare Diseases Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via F. Sforza, 35, 20122, Milan, Italy.
Department of Clinical Sciences and Community Health, Università Degli Studi Di Milano, Milan, Italy.
Sci Rep. 2021 Jan 28;11(1):2594. 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.
血液科医生经常参与1型戈谢病（GD1）患者的诊断过程，因为这些患者会出现多种血液学体征。然而，由于认识不足，GD1主要存在诊断不足的情况。在这项多中心研究中，我们将诊断算法与一项简单检测（干血斑上的β-葡萄糖苷酶活性）相结合，以便在因脾肿大和/或血小板减少症以及其他血液学体征而前来血液科就诊的人群中促进诊断。在这个高危人群中，GD1的患病率为3.3%。我们提出了一个根据三个常规评估参数（血小板计数、铁蛋白和转铁蛋白饱和度）预测患GD1概率的方程。
