Nguyen Kha M, Hoang Sy V, Nguyen Tai N, Ly Sang Q, Dang Vi T, Ly Trung I, N Tran Hai P
Department of Internal Medicine, Faculty of Medicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh, VNM.
Department of Internal Medicine, Faculty of Medicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, VNM.
Cureus. 2024 Aug 30;16(8):e68212. doi: 10.7759/cureus.68212. eCollection 2024 Aug.
Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated levels of low-density lipoprotein cholesterol (LDL-C) in the blood from an incredibly early age. This condition leads to the early development of atherosclerotic arterial diseases, which can manifest even in the first few decades of life. Mutations in genes related to the LDL receptor (LDL-R), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) are the main molecular mechanisms causing familial hypercholesterolemia. This case involves a 44-year-old Vietnamese female who presented at the emergency department with chest pain and was diagnosed with acute myocardial infarction (AMI) complicated by cardiogenic shock. Clinical signs and an elevated LDL-C level pointed to prolonged exposure to high cholesterol. A Dutch Lipid Clinic Network (DLCN) score of 10 further supported the diagnosis of FH. The reverse T-stenting and small protrusion (TAP) technique was selected and successfully employed to stent the LMCA, left anterior descending artery (LAD) and left circumflex artery (LCx). This technique was chosen due to its simplicity and rapid execution, making it particularly suitable in situations of cardiogenic shock where time-consuming procedures should be avoided. Genetic testing confirmed a heterozygous pathogenic mutation in the LDL-R gene, corroborating the clinical diagnosis of FH. The patient's condition has gradually stabilized, and they have been discharged from the hospital. The patient is currently being monitored as an outpatient at the cardiology clinic. This case emphasizes the importance of considering FH in patients with premature cardiovascular events by applying the clinical diagnostic criteria and confirming by genetic analysis. It also highlights advanced interventional techniques for managing complex coronary lesions, such as reverse TAP.
家族性高胆固醇血症（FH）是一种遗传性疾病，其特征是从极幼年起血液中的低密度脂蛋白胆固醇（LDL-C）水平升高。这种情况会导致动脉粥样硬化性疾病的早期发展，甚至在生命的最初几十年就可能出现。与低密度脂蛋白受体（LDL-R）、载脂蛋白B（APOB）和前蛋白转化酶枯草杆菌蛋白酶/kexin 9型（PCSK9）相关的基因突变是导致家族性高胆固醇血症的主要分子机制。该病例涉及一名44岁的越南女性，她因胸痛到急诊科就诊，被诊断为急性心肌梗死（AMI）并伴有心源性休克。临床症状和升高的LDL-C水平表明长期暴露于高胆固醇环境。荷兰脂质诊所网络（DLCN）评分为10进一步支持了FH的诊断。选择并成功采用反向T型支架置入和小突出物（TAP）技术对左主干（LMCA）、左前降支（LAD）和左旋支（LCx）进行支架置入。选择该技术是因为其操作简单、执行迅速，特别适用于应避免耗时操作的心源性休克情况。基因检测证实LDL-R基因存在杂合致病性突变，证实了FH的临床诊断。患者病情已逐渐稳定，并已出院。患者目前在心脏病诊所作为门诊病人接受监测。该病例强调了通过应用临床诊断标准并经基因分析确认，在患有过早心血管事件的患者中考虑FH的重要性。它还突出了用于处理复杂冠状动脉病变的先进介入技术，如反向TAP。
