Prevalence and Prognosis of Molecularly Defined Familial Hypercholesterolemia in Patients with Acute Coronary Syndrome

Overview

Journal Front Cardiovasc Med

Specialty Cardiology & Vascular Diseases

Date 2022 Aug 15

PMID 35966514

Authors

Cheng Wang

Puliang Yu

Lizhi Hu

Minglu Liang

Yi Mao

Qiutang Zeng

Xiang Wang

Kai Huang

Jin Yan

Li Xie

Fengxiao Zhang

Feng Zhu

Affiliations

Soon will be listed here.

Abstract

Background: Familial hypercholesterolemia (FH) can elevate serum low-density lipoprotein cholesterol (LDL-C) levels, which can promote the progression of acute coronary syndrome (ACS). However, the effect of FH on the prognosis of ACS remains unclear.

Methods: In this prospective cohort study, 223 patients with ACS having LDL-C ≥ 135.3 mg/dL (3.5 mmol/L) were enrolled and screened for FH using a multiple-gene FH panel. The diagnosis of FH was defined according to the ACMG/AMP criteria as carrying pathogenic or likely pathogenic variants. The clinical features of FH and the relationship of FH to the average 16.6-month risk of cardiovascular events (CVEs) were assessed.

Results: The prevalence of molecularly defined FH in enrolled patients was 26.9%, and coronary artery lesions were more severe in patients with FH than in those without (Gensini score 66.0 vs. 28.0, respectively; < 0.001). After lipid lowering, patients with FH still had significantly higher LDL-C levels at their last visit (73.5 ± 25.9 mg/dL vs. 84.7 ± 37.1 mg/dL; = 0.013) compared with those without. FH increased the incidence of CVEs in patients with ACS [hazard ratio (HR): 3.058; 95% confidence interval (CI): 1.585-5.900; log-rank < 0.001].

Conclusion: FH is associated with an increased risk of CVEs in ACS and is an independent risk factor for ACS. This study highlights the importance of genetic testing of FH-related gene mutations in patients with ACS.

Citing Articles

Prevalence, clinical features and prognosis of familial hypercholesterolemia in Chinese Han patients with acute coronary syndrome after a coronary event: a retrospective observational study.

Kou H, Wang H, Liu P, Wang X, Zhu W, Jiang W BMC Cardiovasc Disord. 2024; 24(1):144.

PMID: 38443803 PMC: 10913252. DOI: 10.1186/s12872-024-03803-4.

Prevalence and prognosis of genetically proven familial hypercholesterolemia in subjects with coronary artery disease and reduced ejection fraction.

Lee W, Chuang H, Hsiao T, Lee W, Wu J, Sheu W Sci Rep. 2023; 13(1):16942.

PMID: 37805670 PMC: 10560264. DOI: 10.1038/s41598-023-44065-y.

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