NGHIÊN CỨU ĐẶC ĐIỂM RỐI LOẠN LIPID MÁU, ĐỘT BIẾN GEN LDLR Ở 02 PHẢ HỆ GIA ĐÌNH BỆNH NHÂN NHỒI MÁU CƠ TIM CẤP XUẤT HIỆN SỚM TẠI BỆNH VIỆN ĐA KHOA TRÀ VINH NĂM 2021-2022

Abstract

Background: familial hypercholesterolemia (FH) is an autosomal dominant disease caused mainly by mutations in the LDLR gene. Objectives: to study the characteristics of dyslipidemia, LDLR gene mutations in 02 pedigrees of patients with early acute myocardial infarction with dyslipidemia at Tra Vinh General Hospital in 2021-2022. Materials and methods: a cross- sectional descriptive study on a total of 65 members in 2 pedigrees of early acute myocardial infarction patients with dyslipidemia who were diagnosed and treated at the Department of Cardiology and Cardiology Tra Vinh General Hospital in 2021-2022. Results: considering both genealogies: 60% of members were aged 20-59; 58,5% of the members were male; 40% of members were overweight; 7,7% had obesity; smoking history and cardiovascular disease were also equal (7,7%); the prevalence of high blood pressure and diabetes were also not high at 12,3% and 10,8%, respectively. 63,1% of members had dyslipidemia, the disorders were mainly in combination form (63,4%). The degree of total cholesterol disorder was 73,8% of members with normal range. In the first pedigree had 17/35 (48,6%) members carrying mutation c.664T>C; the second pedigree had 14/30 (46,7%) members carrying the IVS7 +10 C>G mutation. All mutants were heterozygous. The total mutation rate was 47,7%. Among the characteristics of dyslipidemia, only the levels of total cholesterol disorder had a statistically significant relationship with the prevalence of LDLR gene mutations (p = 0,001). Conclusions: the prevalence of mutations in the two pedigrees was relatively high (47,7%), so screening for FH, which helps to reduce morbidity and mortality from cardiovascular disease in people with familial hyperlipidemia was essential.