Dataset Information

Familial hypercholesterolemia in very young myocardial infarction.

ABSTRACT: Familial hypercholesterolemia (FH) is one of the most common causes of premature myocardial infarction (MI). However, The patterns of FH remained unrecognized in clinical care, especially in very young patients (VYPs, ≤35 years) with MI. The present study enrolled a total of 1,093 VYPs (≤35 years) presenting a first MI. Clinical diagnosis of FH was made using Dutch Lipid Clinic Network criteria. Coronary severity was assessed by Gensini score (GS). Patients were followed for a median of 40-months with cardiac death, stroke, MI, post-discharge revascularization or unstable angina as primary endpoints. The detected rates of definite/probable FH were 6.5%. The prevalence reached up to 10.3% in patients ≤25 years. The FH had similar levels of comorbidities but was younger, more likely to be very high risk (VHR) and had higher GS (p < 0.05) than unlikely FH. Notably, the FH on prior lipid-lowering medication presented a lower GS compared to those untreated. Differences in event rates were similar in FH as unlikely FH (11.8% vs. 8.1%, adjusted hazard ratio 1.35 [0.64-2.86], p = 0.434) but patients on treatment improved outcome (6.5% vs. 10.5%, adjusted hazard ratio 0.35[0.13-0.95], p = 0.039). The early identification and treatment might be critical to reduce cardiovascular risk in VYPs with MI.

SUBMITTER: Li S

PROVIDER: S-EPMC5995844 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature

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Familial hypercholesterolemia in very young myocardial infarction.

Li Sha S Zhang Hui-Wen HW Guo Yuan-Lin YL Wu Na-Qiong NQ Zhu Cheng-Gang CG Zhao Xi X Sun Di D Gao Xiong-Yi XY Gao Ying Y Zhang Yan Y Qing Ping P Li Xiao-Lin XL Sun Jing J Liu Geng G Dong Qian Q Xu Rui-Xia RX Cui Chuan-Jue CJ Li Jian-Jun JJ

Scientific reports 20180611 1

Familial hypercholesterolemia (FH) is one of the most common causes of premature myocardial infarction (MI). However, The patterns of FH remained unrecognized in clinical care, especially in very young patients (VYPs, ≤35 years) with MI. The present study enrolled a total of 1,093 VYPs (≤35 years) presenting a first MI. Clinical diagnosis of FH was made using Dutch Lipid Clinic Network criteria. Coronary severity was assessed by Gensini score (GS). Patients were followed for a median of 40-month ...[more]

PMID: 29892007

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Project description:BackgroundFamilial hypercholesterolemia (FH) is a common genetic disorder with markedly increased risk of coronary artery diseases (CAD), especially acute myocardial infarction (AMI). However, genetic tests for FH are not always necessary in the current diagnostic criteria of FH, which might lead to underestimation of the prevalence of FH and a lack of awareness of FH-associated CAD and AMI. We aimed to explore the prevalence of genetically defined FH in the hospital-based population and to determine the impact of FH risk variants on CAD and AMI.MethodsThe study participants were recruited between June 24, 2019 and May 12, 2021, at a medical center in Taiwan, in cooperation with the Taiwan Precision Medicine Initiative (TPMI) project. The prevalence of FH was calculated and the effects of FH pathogenic variants on CAD and AMI were analyzed by logistic regression models and shown as ORs and 95% CI.ResultsThe prevalence of genetically defined FH was 1.13% in the hospital-based population in Taiwan. Highest LDL and total cholesterol levels were observed in patients with LDLR rs28942084 (LDL 219.4±55.2; total cholesterol 295.8±55.4). There was an approximately 4-fold increased risk of hyperlipidemia in subjects with the LDLR rs769446356 polymorphism (OR, 4.42; 95% CI, 1.92-10.19) and AMI in individuals with the LDLR rs730882109 polymorphism (OR, 3.79; 95% CI, 2.26-6.35), and a 2-fold increased risk of CAD in those with the LDLR rs749038326 polymorphism (OR, 2.14; 95% CI, 1.31-3.50), compared with the groups without pathogenic variants of FH.ConclusionsThe prevalence of genetically defined FH was 1.13% in the hospital-based population in Taiwan, which was higher than the rate observed in individuals with clinically defined FH. The risk of CAD and AMI was increased to varying degrees in subjects with different FH risk alleles. Close monitoring and risk stratification strategy are essential in high-risk patients with FH risk alleles to facilitate early detection and treatments.

Project description:BackgroundFamilial hypercholesterolemia (FH), characterized by elevated plasma low-density lipoprotein-cholesterol (LDL-C) levels and premature coronary artery disease (CAD), remains mostly underdiagnosed and undertreated. We investigated the prevalence of clinical FH among Chinese patients with premature ST-segment-elevation myocardial infarction (STEMI) and one-year follow-up on their lipid management and cardiovascular events.MethodsFour hundred and ninety-eight premature STEMI patients (363men) were enrolled. FH patients were identified using the Dutch Lipid Clinic Network Criteria. Lipid management and cardiovascular events in all patients were assessed.ResultsNineteen patients (3.8%) were diagnosed as definite/probable FH, 211 (42.4%) as possible FH and 268 (53.8%) as unlikely FH. All patients were divided into two main groups: unlikely FH (0-2 points) and possible FH (≥3 points). Possible FH patients were younger (50.1 years vs. 53.5 years) with higher NT-proBNP level (3014.15 pg/mL vs. 2326.25 pg/mL), occurrence of multi-vessel CAD (37.4% vs. 18.3%), lower LVEF (47% vs. 49%) and more severe Killip classification (Class 3, 20.0% vs. 9.7%). Follow-up data were available for 203 patients from the possible FH group and 243 patients from the unlikely FH group. High intensity statin intake status (%) of possible FH vs. unlikely FH was as follows: 1) on admission: 4.8% vs. 0.4%; 2) at discharge: 10.4% vs. 1.6% and 3) at one year follow-up: 5.4% vs. 0.8%. A significantly low percentage of possible FH patients (18.7% vs. 51.4%) achieved target LDL-C levels. There were no significant differences in MACE defined as a composite of cardiogenic shock or Class IV heart failure, recurrent MI, cardiovascular-related rehospitalization, TLR and CV death between the two groups. However, the proportion of cardiogenic shock or Class IV heart failure was significantly higher in possible FH patients group (5.9% vs.1.2%).ConclusionClinical diagnosis of possible FH is common in Chinese patients with premature STEMI. A low proportion of FH patients were prescribed high intensity statins. Despite aggressive cholesterol-lowering drugs, a significantly lower proportion of FH patients achieved LDL-C targets compared to unlikely FH patients. Possible FH patients were younger with a significantly higher occurrence of multi-vessel CAD and impaired cardiac function.

Dataset Information

Familial hypercholesterolemia in very young myocardial infarction.

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Familial hypercholesterolemia in very young myocardial infarction.

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