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• W4385702535 abstract "Topic: 34. Thrombosis and vascular biology - Biology & Translational Research Background: Several storage disorders frequently develop vascular complications by different risk factors. Fabry disease (FD) is caused by variants in GLA gene (MIM * 300644), which codes the enzyme a-galactosidase A. The pathophysiology is related to the accumulation of globotriaosylceramide, mainly in the vascular endothelium. This storage induces dysfunction, the main cause of vascular accidents, especially in the cerebral tree. Acid Sphingomyelinase Deficiency (ASMD) is caused by variants in the SMPD1 gene (MIM * 607608), that induce lipid abnormalities as low serum concentration of high-density lipoprotein colesterol, hypertriglyceridemia and elevated serum concentration of low-density lipoprotein cholesterol from the earliest age and contribute to increase cardio-vascular complications. Similar hyperlipidemic patterns appear in acid lysosomal lipase deficiency (LAL-D) disease caused by variants in the LIPA gene (MIM * 613497), including increase of liver enzymes induced by lipid deposits in the liver. Other characteristics of intraosseous vascular obstructions are developed in type 1 Gaucher disease (GD1) caused by variants in the GBA1 gene (MIM * 606463); in this lysosomal disorder there are no hyperlipidemia. Recently, the importance of neutrophil extracellular traps (NETs) in thrombosis and other disorders has been described. NETs are structures formed by DNA released by neutrophils and intracellular factors, such as proteins and histones. Aims: The aim of this project is to identify profiles of NETs in patients with lysosomal disorders (LSD). Methods: 50 healthy controls (25 females y 25 males) 22 FD patients, 20 ASMD, 20 LAL-D and 40 GD1 (20 with intraosseous vascular obstructions and 20 without). All patients have been confirmed by genetic and enzymatic activity studies. All studies have been performed in plasma samples previous to start therapy. Results: 10 males and 12 females with FD were included, the median age was 43.0 (19.00-50.00) and 44.5 (33.50-58.00) years old, respectively. The median age for the other disease were for ASMD 38.5 (1.00-54.00), LAL-D 17.5 (1.00-41.00) and GD1 37.5 (31.25-47.00). In FD statistically significant increase of Heterodimer S100A8/S100A9 (MRP) and a statistically significant decrease of DNAse were observed in males and female patients vs healthy controls of the same sex. Also, a statistically significant decrease of mieloperoxidase (MPO) were observed in female patients vs female healthy controls. Within the male patients group, 40% (4/10) had suffered a thrombotic event but none of the molecules analyzed showed significant changes between male FD patients with and without thrombosis. Summary/Conclusion: These variations have been associated with a greater formation of NETs so it would be advisable to extend this study, as well as study other indicators and risk factors for the development of thrombotic complications. The rest of the results are under analysis. Keywords: Neutrophil, Lysosomal storage disease, Thrombosis" @default.
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• W4385702535 date "2023-08-01" @default.
• W4385702535 modified "2023-09-27" @default.
• W4385702535 title "P1662: STUDY OF THE DEVELOPMENT AND INVOLVEMENT OF NEUTROPHIL EXTRACELLULAR TRAPS (NETS) IN VASCULAR COMPLICATIONS IN LYSOSOMAL DISORDERS" @default.
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