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How To Identify Familial Premature Myocardial Infarction: Comparing Approaches To Identify Familial
Sabina Beheshti1,2,3, Christian M Madsen1,2,3, Anette Varbo1,2,3
1Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev Ringvej, Herlev, Denmark.
Insights
Identifying families with premature myocardial infarction is challenging. Current familial hypercholesterolemia (FH) criteria detect only a small fraction, highlighting the need for improved methods for early detection and prevention.
Area of Science:
- Cardiology
- Genetics
- Public Health
Background:
- Premature myocardial infarction (MI) in families poses a significant health concern.
- Identifying at-risk families is crucial for preventive strategies.
- Current methods for identifying familial premature MI require evaluation.
Purpose of the Study:
- To compare different approaches for identifying familial premature myocardial infarction (MI) in the general population.
- To assess the effectiveness of familial hypercholesterolemia (FH) criteria and low-density lipoprotein (LDL) cholesterol cut-points.
Main Methods:
- Utilized data from the Copenhagen General Population Study (106,732 individuals).
- Applied various clinical and mutation criteria for FH, alongside LDL cholesterol thresholds.
- Compared the sensitivity and yield of different identification strategies.
Main Results:
- Familial hypercholesterolemia (FH) criteria identified only 13% of familial premature MI cases.
- Sensitivities for different criteria ranged from 0.9% to 13%.
- Odds ratios for familial premature MI varied significantly across criteria, with clinical FH by Dutch Lipid Clinic Network criteria showing the highest association (OR 4.7).
Conclusions:
- Existing FH criteria identify a limited proportion of families with premature MI in the general population.
- The study provides data to inform the selection of optimal methods for identifying families with premature MI.
- Improved identification strategies are essential for the potential preventive importance of early detection.
Context:
How best to identify families with premature myocardial infarction is unclear.
Objective:
We compared approaches to identify familial premature myocardial infarction in the general population using different familial hypercholesterolemia (FH) criteria and low-density lipoprotein (LDL) cholesterol cut-points.
Design And Setting:
Clinical and mutation criteria for FH and LDL cholesterol cut-points were applied for identification of familial premature myocardial infarction in 106,732 individuals from the Copenhagen General Population Study.
Results:
FH criteria identified 898 (13%) cases with familial premature myocardial infarction, leaving 5856 (87%) cases undetected. The ORs for familial premature myocardial infarction, compared with the respective remainder groups, were 4.7 (95% CI, 3.7 to 6.0) for clinical FH by Dutch Lipid Clinic Network criteria, 4.4 (4.0 to 4.7) for Simon Broome criteria, 2.1 (95% CI, 1.7 to 3.6) for Make Early Diagnosis to Prevent Early Death criteria, 2.1 (95% CI, 1.4 to 3.3) for FH mutation, and 1.4 (95% CI, 1.3 to1.6) for LDL cholesterol ≥5 mmol/L (193 mg/dL). For these risk groups, the sensitivity (true positive rate) for identification of familial premature myocardial infarction were 1.3%, 13%, 1.6%, 0.9%, and 7.1%, respectively. Compared with universal screening of a similar fraction of the population, the relative increase in sensitivity for these risk groups was 3.8-fold [fraction of population examined: 0.3%, 3.3-fold (4%), 2.0-fold (0.8%), 2.0-fold (0.4%), and 1.4-fold (5.3%), respectively].
Conclusion:
Criteria for FH identify a small fraction of individuals with familial premature myocardial infarction in the general population. Actively identifying families with premature myocardial infarction would be of potential preventive importance, and this study provides data that could be used to choose the best method for such family identification.
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