ArticleJournal of translational medicine2018
Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease.
Article in Journal of translational medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 35 citations in OpenAlex.
- Role of PCSK9 in hallmarks of cancer: From mechanisms to interventions (Review).Oncology letters · 2026Review
- Evaluation of the cellular impact of missense variants in low-density lipoprotein receptor-related protein 6 (LRP6) associated with cardiovascular diseases in HeLa and HEK293T cell lines.Frontiers in cell and developmental biology · 2026Article
- Translating the effect of dual lipid reduction with PCSK9 inhibitors on a mechanical vascular instrumental biomarker in familial hypercholesterolemia subjects.Journal of translational medicine · 2025Observational
- Cardiovascular disease risk in patients with elevated LDL-C levels: FH vs. non-FH.Frontiers in cardiovascular medicine · 2024Article
- Prevalent Variants in the LDLR Gene Impair Responsiveness to Rosuvastatin among Family Members of Patients with Premature Myocardial Infarction.Journal of personalized medicine · 2023Article
- Chinese guideline for lipid management (2023): a new guideline rich in domestic elements for controlling dyslipidemia.Journal of geriatric cardiology : JGC · 2023Article
- 2023 China Guidelines for Lipid Management.Journal of geriatric cardiology : JGC · 2023Article
- Identification of anJournal of geriatric cardiology : JGC · 2023Article
- Familial Hypercholesterolemia and Acute Coronary Syndromes: The Microbiota-Immunity Axis in the New Diagnostic and Prognostic Frontiers.Pathogens (Basel, Switzerland) · 2023Review
- 2023 Chinese guideline for lipid management.Frontiers in pharmacology · 2023Review
- Rare Variants in Genes of the Cholesterol Pathway Are Present in 60% of Patients with Acute Myocardial Infarction.International journal of molecular sciences · 2022Article
- Expanding the genetic spectrum for Chinese familial hypercholesterolemia population with six genetic mutations identified using a next-generation sequencing-based laboratory-developed screening test.Molecular genetics & genomic medicine · 2022Article
- Prevalence and prognosis of molecularly defined familial hypercholesterolemia in patients with acute coronary syndrome.Frontiers in cardiovascular medicine · 2022Article
- Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia).Journal of personalized medicine · 2021Article
- Familial hypercholesterolemia in Southeast and East Asia.American journal of preventive cardiology · 2021Review
- Mice lacking global Stap1 expression do not manifest hypercholesterolemia.BMC medical genetics · 2020Article
- A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia.Journal of personalized medicine · 2020Review
- Genetic Diagnosis of Familial Hypercholesterolemia in Asia.Frontiers in genetics · 2020Review
- Genes Potentially Associated with Familial Hypercholesterolemia.Biomolecules · 2019Review
- Circulating PCSK9 and cardiovascular events in FH patients with standard lipid-lowering therapy.Journal of translational medicine · 2019Article
Corrections and comments
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
Abstract
backgroundPatients with monogenic familial hypercholesterolemia (FH) have high risk for coronary artery disease (CAD). A recent FH Expert Panel suggested that FH was underdiagnosed and undertreated which needs early diagnosis. Moreover, the proportion of DNA-confirmed FH patients hospitalized with very early-onset (≤ 35 years) CAD remains uncertain.
methodsOne hundred and five patients with age ≤ 35 years and LDL-C ≥ 3.4 mmol/L were tested for 9 genes (LDLR, APOB, PCSK9, APOE, STAP1, LIPA, LDLRAP1, ABCG5/8). Dutch Lipid Clinic Network (DLCN) and Simon Broome (SB) criteria for FH were also performed.
resultsThe prevalence of genetically confirmed FH was 38.1% (n = 40) in 105 patients. DLCN categorized 26.7% patients to probable and definite FH while SB identified 17.1% of patients with possible to definite FH. Twenty-five (62.5%) and seventeen (42.5%) patients with pathogenic mutations were undiagnosed according to SB and DLCN criteria. FH variant carriers, especially homozygotes, had significantly higher plasma LDL-C levels. The best LDL-C threshold for genetically confirmed FH was 4.56 mmol/L in the present study.
conclusionsFH is really a common cause for very young CAD patients (≤ 35 years) with a 38.1% of causative mutations in China and best LDL-C threshold for predicting mutations was 4.56 mmol/L. The underdiagnostic rate of clinical criteria was around 42.5-62.5%, suggesting that the expanded genetic testing could indeed promote the diagnosis of FH.
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