High risk screening for Gaucher disease in patients with splenomegaly and/or thrombocytopenia in China: 55 cases identified.

High risk screening for Gaucher disease in patients with splenomegaly and/or thrombocytopenia in China: 55 cases identified. Clin Chim Acta. 2020 Mar 09;: Authors: Huang Y, Jia X, Tang C, Liu S, Sheng H, Zhao X, Zeng C, Liu L Abstract Gaucher disease (GD) is a common lysosomal storage disorder caused by deficiency of glucocerebrosidase (GCase) due to the pathogenic variants in the GBA gene. The aim of this study was to evaluate the performance of high risk screening program for GD by measuring the enzyme activities of GCase and chitotriosidease in dried blood spots of patients with splenomegaly and/or thrombocytopenia. A total of 787 subjects (364 females and 423 males) with unexplained splenomegaly and/or thrombocytopenia were enrolled in this study from May 2016 to Aug 2019. The cutoff value of GCase activity was set as less than 3.0 pmol/punch/h for screening positive. The diagnosis of GD was confirmed by Sanger sequencing of the GBA gene. Among 131 screening positive cases, 49 patients were confirmed GD. The positive predictive value was 37.4%.Three patients with boundary values (GCase 3-4 pmol/punch/h) and other three splenectomic patients with normal GCase activity were confirmed GD by GBA genetic analysis because of increased chitotriosidase or Gaucher cells in bone marrow. A total of 55 GD cases were identified. The sensitivity and specificity of the high risk screening were 98.2% and 89.5%, respectively. These 55 GD patients...
Source: International Journal of Clinical Chemistry - Category: Chemistry Authors: Tags: Clin Chim Acta Source Type: research