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Familial hypercholesterolemia and apolipoprotein E4
1Second Department of Internal Medicine, Asahikawa Medical College, Japan.
Insights
Apolipoprotein E4 (apoE4) is more common in familial hypercholesterolemia (FH) patients and linked to higher cholesterol, triglycerides, and increased risk of ischemic heart disease (IHD).
Area of Science:
- Genetics
- Cardiovascular Medicine
- Biochemistry
Background:
- Familial hypercholesterolemia (FH) is a genetic disorder causing high cholesterol.
- Apolipoprotein E (apoE) plays a role in lipid metabolism.
- The apoE4 phenotype is associated with cardiovascular risk.
Purpose of the Study:
- To investigate the relationship between familial hypercholesterolemia (FH) and the apolipoprotein E4 (apoE4) phenotype.
- To determine the impact of apoE4 on lipid levels and ischemic heart disease (IHD) risk in FH patients.
Main Methods:
- Studied 50 unrelated heterozygous FH patients and 129 normolipidemic subjects.
- Assessed apo E4 phenotype frequency in both groups.
- Compared lipid profiles (total cholesterol, triglycerides, LDL-cholesterol) and IHD prevalence between FH patients with and without apo E4.
Main Results:
- Apo E4 phenotype frequency was significantly higher in FH patients (30.0%) than in controls (15.5%).
- FH patients with apo E4 had higher total cholesterol and triglyceride levels, and a trend for higher LDL-cholesterol.
- Ischemic heart disease (IHD) prevalence was significantly higher in FH patients with apo E4 (73.3%) compared to those without (31.4%).
Conclusions:
- The apoE4 phenotype is more prevalent in familial hypercholesterolemia.
- ApoE4 is associated with elevated total cholesterol and triglyceride levels in FH patients.
- ApoE4 may contribute to the increased predisposition to ischemic heart disease in individuals with FH.
Abstract:
The purpose of this study was to elucidate the relationship between two genetic factors associated with raised blood cholesterol, i.e. familial hypercholesterolemia (FH) and apolipoprotein (apo) E4. A group of 50 unrelated heterozygous FH patients aged 33-71 years were studied together with 129 normolipidemic subjects. A significantly higher frequency of apo E4 phenotypes was found in FH patients (30.0%) than in normolipidemic subjects (15.5%). FH patients were divided into two groups with and without apo E4. Plasma total cholesterol (Chol) and triglyceride (TG) levels were significantly higher, and plasma low density lipoprotein-cholesterol (LDL-Chol) level tended to be higher in FH patients with apo E4 than in those without apo E4. In addition, the prevalence of ischemic heart disease (IHD) was significantly higher in FH patients with apo E4 (73.3%) than in those without apo E4 (31.4%). No significant difference was noted in age and in the prevalence of obesity, diabetes, hypertension and smoking between the FH groups with and without apo E4. These results suggest that apo E4 is associated with higher levels of total Chol and TG and, at least in part, contributes to the predisposition to IHD in FH.