Tăng cholesterol máu gia đình (FH) là một bệnh di truyền trội trên nhiễm sắc thể thường, chủ yếu do đột biến gen LDLR. Bài viết trình bày khảo sát 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. Vinh năm 2021-2022. | N Correspondence to SUMMARY Dr. Pham Thi Ngoc Nga Background Familial hypercholesterolemia FH is an autosomal dominant Can Tho University disease caused mainly by mutations in the LDLR gene. of Medicine and Pharmacy Objective To study the characteristics of dyslipidemia LDLR gene Email ptnna@ mutations in 02 pedigrees of patients with early acute myocardial infarction with dyslipidemia at Tra Vinh General Hospital from 2021 to 2022. Received 20 6 2023 Materials and methods A cross- sectional descriptive study on a total of Accepted 24 7 2023 65 members in 2 pedigrees of early acute myocardial infarction patients with Published online 01 8 2023 dyslipidemia who were diagnosed and treated in the Department of Cardiology and Cardiology Tra Vinh General Hospital in 2021-2022. Results Cconsidering both genealogies 60 of members were aged from To cite Nguyen MH Nguyen 20 to 59 58 5 of the members were male 40 of members were overweight TK Nguyen HH et al. J Vietnam 7 7 had obesity history of smoking and cardiovascular disease were also low Cardiol 2023 106 65-71 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 which were mainly in combination form . There was 73 8 of members had normal total cholesterolemia. In the first pedigree had 17 35 48 6 members carrying mutation gt C the second pedigree had 14 30 46 7 members carrying the IVS7 10 C gt G mutation. All mutants were heterozygous. The total mutation rate was 47 7 . Among the characteristics of dyslipidemia the degree of total cholesterol disorder and the degree of LDL-C elevation were statistically significant with the incidence of LDLR gene mutations p N Tác giả liên hệ . Phạm Thị Ngọc Nga Đặt vấn đề Tăng cholesterol máu gia đình FH là một bệnh di truyền Trường Đại học Y Dược Cần Thơ trội trên nhiễm sắc thể thường chủ yếu do đột biến gen LDLR. Email ptnna@ Mục tiêu Khảo sát đặc điểm rối
