ArticleClinical cardiology2019
Prevalence of familial hypercholesterolemia in patients with premature myocardial infarction.
Article in Clinical cardiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 27 citations in OpenAlex.
- Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction.Lipids in health and disease · 2019Trial
- Correlation between clinical classification and genetic analysis of familial hypercholesterolemia in premature coronary artery disease in a cohort of Egyptian patients.Human genomics · 2025Article
- Prevalence and penetrance of pathogenic and likely pathogenicFrontiers in genetics · 2025Article
- SYNTAX I score is associated with genetically confirmed familial hypercholesterolemia in chinese patients with coronary heart disease.BMC cardiovascular disorders · 2024Article
- Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.International journal of molecular sciences · 2022Article
- Low-density lipoprotein cholesterol goal attainment in patients with clinical evidence of familial hypercholesterolemia and elevated Lp(a).Lipids in health and disease · 2022Article
- Developing a Hybrid Risk Assessment Tool for Familial Hypercholesterolemia: A Machine Learning Study of Chinese Arteriosclerotic Cardiovascular Disease Patients.Frontiers in cardiovascular medicine · 2022Article
- The Prevalence and Genetic Spectrum of Familial Hypercholesterolemia in Qatar Based on Whole Genome Sequencing of 14,000 Subjects.Frontiers in genetics · 2022Article
- Risk factors, clinical features, and outcomes of premature acute myocardial infarction.Frontiers in cardiovascular medicine · 2022Article
- Characterization of familial hypercholesterolemia in Taiwanese ischemic stroke patients.Aging · 2021Article
- Familial Hypercholesterolemia in Asia Pacific: A Review of Epidemiology, Diagnosis, and Management in the Region.Journal of atherosclerosis and thrombosis · 2021Review
- Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis: Identification Methods, Patient Activation, and Cascade Testing for Familial Hypercholesterolemia.Circulation. Genomic and precision medicine · 2021Article
- Familial Hypercholesterolemia in Premature Acute Coronary Syndrome. Insights from CholeSTEMI Registry.Journal of clinical medicine · 2020Article
- A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia.Journal of personalized medicine · 2020Review
- Prevalence of familial hypercholesterolemia in patients with premature myocardial infarction.Clinical cardiology · 2019Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
backgroundFamilial hypercholesterolemia (FH) is a genetic cause of premature myocardial infarction (PMI). Early diagnosis of FH is critical for prognosis. HYPOTHESIS: To investigate the prevalence of FH among a cohort of Chinese patients with PMI using genetic testing, and to evaluate different diagnostic criteria.
methodsA total of 225 consecutive PMI patients were recruited. Low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin-kexin type 9 (PCSK9) and low-density lipoprotein receptor adaptor protein 1 (LDLRAP1) genes were detected by Sanger sequencing. FH was diagnosed using the Dutch Lipid Clinic Network (DLCN) criteria and modified DLCN criteria, respectively. The prevalence and clinical features of FH were analyzed.
resultsIn all PMI patients, pathogenic mutations of LDLR, APOB, PCSK9 and LDLRAP1 genes were found in 10 of 225 patients. Among all mutations, four mutations (LDLR c.129G>C, LDLR c.1867A>T, LDLRAP1 c.65G>C, and LDLRAP1 c.274G>A) were newly discovered. The prevalence of FH diagnosed by genetic testing was 4.4%. The prevalence of definite/probable FH diagnosed by DLCN and modified DLCN criteria reached 8.0% and 23.6%, respectively, and the mutation rates were 33.3% and 12.2%, respectively. The low-density lipo-protein cholesterol (LDL-C) levels in PMI patients with FH were far from goal attainment. Only one of the FH patients had LDL-C <2.5 mmol/L, and none of them had LDL-C <1.8 mmol/L.
conclusionsThe prevalence of FH among Chinese patients with PMI appeared relatively common. Underdiagnosis and undertreatment of FH are still a big problem, which should arouse a widespread concern.
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