Related Experiment Video
Updated: Dec 2, 2025
A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Familial Hypercholesterolemia in Premature Acute Coronary Syndrome. Insights from CholeSTEMI Registry
Rebeca Lorca1,2,3, Andrea Aparicio2, Elias Cuesta-Llavona1,3
1Reference Unit of Familiar Cardiomyopathies-HUCA, Área del Corazón y Departamento de Genética Molecular, Hospital Universitario Central Asturias, 33014 Oviedo, Spain.
Insights
Familial hypercholesterolemia (FH) is rare in patients with premature ST-elevation myocardial infarction (STEMI), despite its known link to coronary artery disease (CAD). Aggressive preventive strategies and lipid-lowering therapy are crucial for young individuals.
Area of Science:
- Cardiology
- Genetics
- Public Health
Background:
- Familial hypercholesterolemia (FH) is an underdiagnosed genetic disorder increasing the risk of premature coronary artery disease (CAD).
- The prevalence of FH in patients experiencing ST-elevation myocardial infarction (STEMI) at a young age remains understudied.
Purpose of the Study:
- To determine the prevalence of FH in patients with premature CAD and STEMI.
- To analyze cardiovascular risk factors, low-density lipoprotein cholesterol (LDLc) levels, and gender differences in this population.
Main Methods:
- Consecutive patients with suspected STEMI underwent cardiac catheterization.
- Patients with confirmed premature CAD (men < 55, women < 60) were assessed.
- Next-generation sequencing (NGS) was performed on 56 patients for FH gene analysis.
- Clinical data and Dutch Lipid Clinic Network (DLCN) scores were analyzed.
Main Results:
- Only 1.8% of patients with premature CAD and STEMI had probable FH based on genetic testing and DLCN scores.
- Smoking and high body mass index (BMI) were the most prevalent cardiovascular risk factors (>80%).
- LDLc control was suboptimal despite high-dose statin therapy, failing to meet guideline targets (<55 mg/dL).
Conclusions:
- The prevalence of FH in premature STEMI patients is lower than anticipated but still higher than in the general population.
- Clinical screening for FH should be considered in patients with probable or definite clinical criteria.
- Intensive lipid-lowering therapy and aggressive preventive strategies are essential for secondary prevention in young STEMI patients.
Abstract:
Familial hypercholesterolemia (FH) is an underdiagnosed genetic inherited condition that may lead to premature coronary artery disease (CAD). FH has an estimated prevalence in the general population of about 1:313. However, its prevalence in patients with premature STEMI (ST-elevation myocardial infarction) has not been widely studied. This study aimed to evaluate the prevalence of FH in patients with premature STEMI. Cardiovascular risk factors, LDLc (low-density lipoprotein cholesterol) evolution, and differences between genders were also evaluated. Consecutive patients were referred for cardiac catheterization to our center due to STEMI suspicion in 2018. From the 80 patients with confirmed premature CAD (men < 55 and women < 60 years old with confirmed CAD), 56 (48 men and eight women) accepted to be NGS sequenced for the main FH genes. Clinical information and DLCN (Dutch Lipid Clinic Network) score were analyzed. Only one male patient had probable FH (6-7 points) and no one reached a clinically definite diagnosis. Genetic testing confirmed that the only patient with a DLCN score ≥6 has HF (1.8%). Smoking and high BMI the most frequent cardiovascular risk factors (>80%). Despite high doses of statins being expected to reduce LDLc levels at STEMI to current dyslipidemia guidelines LDL targets (<55 mg/dL), LDLc control levels were out of range. Although still 5.4 times higher than in general population, the prevalence of FH in premature CAD is still low (1.8%). To improve the genetic yield, genetic screening may be considered among patients with probable or definite FH according to clinical criteria. The classical cardiovascular risk factors prevalence far exceeds FH prevalence in patients with premature STEMI. LDLc control levels after STEMI were out range, despite intensive hypolipemiant treatment. These findings reinforce the need for more aggressive preventive strategies in the young and for intensive lipid-lowering therapy in secondary prevention.
Related Concept Videos
01:30Acute Coronary Syndrome III: Diagnostic Studies
01:30Acute Coronary Syndrome I: Introduction
01:19Acute Coronary Syndrome II: Pathophysiology and Clinical Manifestations
01:29Cholesterol: Significance and Regulation
Considering cholesterol and...
01:30Coronary Artery Disease III: Clinical Manifestations
01:30Coronary Artery Disease I: Introduction