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[Familial hypercholesterolemia and plasma Lp(a) levels: 2 cardiovascular risk factors]
J T Real1, G Romero, M A Priego
1Unidad de Lípidos y Arteriosclerosis, Hospital Clínico, Valencia.
Insights
Familial hypercholesterolemia (FH) patients show elevated lipoprotein (a) [Lp(a)] levels, increasing cardiovascular risk. This finding helps explain the varying clinical severity observed in FH individuals.
Area of Science:
- Cardiovascular Genetics
- Lipid Metabolism
- Clinical Biochemistry
Background:
- Elevated lipoprotein (a) [Lp(a)] is linked to increased risk of premature heart disease.
- Familial hypercholesterolemia (FH) is a genetic disorder causing high LDL cholesterol (LDL-C).
- Significant variation exists in FH clinical severity.
Purpose of the Study:
- Analyze Lp(a) levels in genetically diagnosed FH patients without coronary heart disease (CHD).
- Investigate the contribution of Lp(a) to the clinical variability of FH.
- Assess the combined impact of hypercholesterolemia and elevated Lp(a) on cardiovascular risk.
Main Methods:
- Compared plasma lipid and lipoprotein levels in 60 FH subjects and 74 normolipidemic controls.
- Utilized Lp(a) measurements and log-transformed values for analysis.
- Examined FH probands and their normolipidemic relatives.
Main Results:
- FH subjects exhibited significantly higher plasma Lp(a) levels (22.3 mg/dl vs. 12.5 mg/dl, p=0.001).
- A greater percentage of FH patients had Lp(a) > 20 mg/dl (47% vs. 21%, p=0.002).
- Elevated Lp(a) was confirmed in FH probands compared to controls.
Conclusions:
- FH patients face heightened cardiovascular risk due to combined hypercholesterolemia and elevated Lp(a).
- These findings suggest additive effects from distinct genetic loci contributing to premature heart disease.
- Elevated Lp(a) may explain the wide spectrum of clinical severity in FH.
Objective:
Lipoprotein (a) (Lp(a)) is a modified LDL particle in human plasma. Elevated Lp(a) plasma concentration has been associated with increase risk of premature heart disease in most cross-sectional studies. Familial hypercholesterolemia (FH) is a genetic disorder characterized by an elevation of LDL cholesterol (LDL-C) caused by molecular defects in the LDL receptor gene. The aim of our study is to analyze Lp(a) values in a genetic diagnosed FH group without coronary heart disease (CHD) and explain the considerable variation in clinical severity of FH patients.
Method:
We have study plasma lipids and lipoprotein levels in 60 subjects with familial hypercholesterolemia without CHD and in 74 normolipidemic controls without personal history of CHD and dyslipidemia of the Valencia area in Spain.
Results:
We found differences in total and LDL cholesterol levels and apo B values as expected and also in plasma Lp(a) levels and log transformed values between FH subjects and normolipidemic controls (22.3 mg/dl +/- 19.4 vs 12.5 mg/dl +/- 12.6 p = 0.001 and 1.12 +/- 0.53 vs. 0.84 +/- 0.58 p = 0.008). The percentage of FH subjects with a cut point Lp(a) value > 20 mg/dl is significantly elevated in this group (47% vs 21% p = 0.002). Because of family relationships within the entire study population we also have compared 23 FH probands with the normolipidemic controls. Again the same results have been obtained (Lp(a) levels of 23.21 mg/dl +/- 19.2 vs 12.54 mg/dl +/- 12.63 p = 0.019 and log Lp(a) values of 1.19 +/- 0.42 vs 0.84 +/- 0.58 p = 0.01).
Conclusion:
Our results indicate that FH subjects will have a more cardiovascular risk due to the potentiation of hypercholesterolemia and elevated Lp(a) values, indicating the addition effects of two different locus implicated in premature coronary heart disease and could explain the considerable variation in clinical severity of FH.