PHÂN LOẠI TOAST VÀ MỘT SỐ BIẾN THỂ GEN LIÊN QUAN ĐẾN QUÁ TRÌNH ĐÔNG MÁU Ở NGƯỜI BỆNH NHỒI MÁU NÃO TRẺ TUỔI

Abstract

Objective: Describe causes of ischemic stroke according to TOAST classification and the prevalence of some gene variants related to blood clotting in young patients. Subjects and methodology: Cross-sectional study; Subjects are patients aged 18 - 45 years old with a diagnosis of ischemic stroke and undergoing genetic testing for thrombosis risk, treated at Bach Mai hospital from January 2022 to September 2023. Results: The study enrolled 59 patients. The average age is 35.78 ± 5.93, men accounted for 62.7%. Classifying the causes of ischemic stroke according to TOAST, the group of undetermined cause predominates with 59.3%. The rate of ischemic stroke due to undetermined etiology in younger age groups (< 34 years old) is statistically significantly higher than in older age groups (35 - 45 years old) with p = 0.007. No cases are detected carrying the FVL, FII G20210A, and FXIII Val34Leu mutations. The PAI-1 4G/5G polymorphism is the most common gene variant with a rate of 84.7% (57.6% heterozygous 4G/5G, 27.1% homozygous 4G/4G). Next are MTHFR A1298C (47.5% heterozygous, 5.1% homozygous) and MTHFR C677T (35.6% heterozygous, 5.1% homozygous). HR2 mutation only occurs in 3 heterozygous cases, accounting for 5.1%. Conclusion: Young patients with ischemic stroke are less likely to have common vascular risk factors. Ischemic stroke of unknown etiology predominates in young people. FVL, FII G20210A, and FXIII Val34Leu mutations are rare, not a notable risk factor for ischemic stroke. HR2 mutations are rare and there is no evidence of an association with an increased risk of ischemic stroke. The PAI-1 4G/5G polymorphism is very common; in addition, MTHFR C677T and MTHFR A1298C mutations are also found with high frequency. These three gene variants should be considered as a risk factor in young patients with ischemic stroke.