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Familial lipoprotein disorders and premature coronary artery disease
E J Schaefer1, J J Genest, J M Ordovas
1Tufts University, Department of Medicine, Boston, MA.
Insights
Premature coronary heart disease is linked to family history, high LDL cholesterol, low HDL cholesterol, smoking, high blood pressure, and diabetes. Several familial lipid disorders contribute to this risk.
Area of Science:
- Cardiology
- Genetics
- Metabolic Disorders
Background:
- Premature coronary heart disease (CHD) poses a significant health burden.
- Key risk factors include family history, dyslipidemia, hypertension, diabetes, and smoking.
- Familial lipid disorders are strongly associated with early-onset CHD.
Purpose of the Study:
- To review common familial lipid disorders linked to premature CHD.
- To discuss the diagnostic criteria and management strategies for these conditions.
- To highlight the importance of identifying and managing lipid abnormalities in preventing early heart disease.
Main Methods:
- Review of established risk factors for premature CHD.
- Characterization of common familial lipid disorders using population-specific percentile values.
- Discussion of diagnostic approaches and therapeutic interventions.
Main Results:
- Identified six significant risk factors for premature CHD: family history, elevated LDL cholesterol, low HDL cholesterol, smoking, hypertension, and diabetes.
- Detailed common familial lipid disorders: lipoprotein(a) excess, dyslipidemia, combined hyperlipidemia, hypoapobetalipoproteinemia, hypoalphalipoproteinemia, and hypercholesterolemia.
- Emphasized the use of age and gender-specific percentiles for disorder characterization.
Conclusions:
- Familial lipid disorders are crucial contributors to premature CHD.
- Early diagnosis and management of these genetic lipid abnormalities are essential for CHD prevention.
- A comprehensive approach addressing all risk factors is vital for patients with premature heart disease.
Abstract:
Significant risk factors for premature coronary heart disease include: (1) family history, (2) elevated low density lipoprotein (LDL) cholesterol level > or = 160 mg/dl, l, (3) decreased high density lipoprotein (HDL) cholesterol level < 35 mg/dl, l, (4) cigarette smoking, (5) high blood pressure and (6) diabetes mellitus. All of these risk factors are common in patients with premature heart disease. Common familial lipid disorders associated with premature heart disease include familial lipoprotein(a) excess, familial dyslipidemia (elevated triglycerides and decreased HDL cholesterol), familial combined hyperlipidemia (elevations of LDL cholesterol and triglycerides, and often decreased HDL cholesterol), familial hypoapobetalipoproteinemia (elevated apolipoprotein B levels), familial hypoalphalipoproteinemia (low HDL cholesterol levels), and familial hypercholesterolemia (elevated LDL cholesterol levels). All these disorders have been characterized using age and gender specific 90th and 10th percentile values from the normal population. The diagnosis and potential management of these disorders is reviewed.