Identifying familial hypercholesterolemia in acute coronary syndrome
Related Experiment Video
Updated: Mar 22, 2026

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
1aCardiology Division, Geneva University Hospitals, Geneva bDepartment of Ambulatory Care and Community Medicine, University of Lausanne, Lausanne, Switzerland.
Insights
Familial hypercholesterolemia is underdiagnosed, even in acute coronary syndrome (ACS) patients. Despite treatment, few achieve LDL-cholesterol goals, highlighting the need for better screening and lipid management post-ACS.
Area of Science:
- Cardiology
- Genetics
- Metabolic Disorders
Background:
- Familial hypercholesterolemia (FH) is a common genetic disorder causing high LDL-cholesterol and early heart disease.
- FH is often undiagnosed, with acute coronary syndromes (ACS) being the first clinical sign for many.
- Missed FH diagnoses are common even during ACS hospitalizations.
Purpose of the Study:
- To review the identification and prognosis of FH in patients after hospitalization for ACS.
- To emphasize the importance of early FH detection in ACS patients for improved outcomes.
Main Methods:
- Review of existing literature on FH identification and management in ACS patients.
- Analysis of prevalence data and treatment outcomes in FH patients post-ACS.
Main Results:
- FH prevalence is 10x higher in ACS patients than the general population.
- Less than 5% of FH patients achieve LDL-cholesterol targets 1 year post-ACS, despite statin therapy and cardiac rehab.
- FH patients with ACS face a high risk of recurrent cardiovascular events.
Conclusions:
- Systematic screening for FH during ACS hospitalizations is crucial for secondary prevention.
- Improved lipid management, potentially with advanced therapies beyond statins, is needed for FH patients post-ACS.
Purpose Of Review:
Familial hypercholesterolemia is a frequent genetic disorder characterized by elevated LDL-cholestrol and premature coronary heart disease. Familial hypercholesterolemia remains largely underdiagnosed in the general population and for many patients the initial clinical manifestation is acute coronary syndromes (ACS). Furthermore, many missed diagnosis of familial hypercholesterolemia can also occur during hospitalization for ACS. In this review, we aim to discuss the identification and prognosis of familial hypercholesterolemia after hospitalization for ACS.
Recent Findings:
The prevalence of familial hypercholesterolemia was about 10 times higher among patients hospitalized for ACS compared with the general population. Although 70% of patients with familial hypercholesterolemia were discharged with high-intensity statins, and 65% attended cardiac rehabilitation, less than 5% reached the recommended LDL-cholesterol target less than 1.8 mmol/l 1 year after ACS. Furthermore, patients with familial hypercholesterolemia and ACS were at high-risk of recurrence of cardiovascular events after discharge.
Summary:
A systematic screening strategy to identify patients with familial hypercholesterolemia at the time ACS is required to maximize secondary prevention and improve lipid management. It is expected that a substantial number of familial hypercholesterolemia patients would benefit from more effective lipid-lowering drugs after ACS, in addition to statins.
Related Concept Videos
Acute Coronary Syndrome I: Introduction
Acute Coronary Syndrome II: Pathophysiology and Clinical Manifestations
Acute Coronary Syndrome III: Diagnostic Studies
Acute Coronary Syndrome V: Nursing Management
Acute Coronary Syndrome IV: Interprofessional Care
Coronary Artery Disease II: Pathophysiology

