Related Experiment Videos
Plasma Lp(a) values in familial hypercholesterolemia and its relation to coronary heart disease
J T Real1, J F Ascaso, F J Chaves
1Endocrine Service, Hospital Clinico Universitario, University of Valencia, Spain.
Insights
Plasma lipoprotein(a) levels do not differ in familial hypercholesterolemia (FH) patients compared to relatives. Lp(a) is not linked to coronary heart disease (CHD) presence or LDL receptor mutations in FH.
Area of Science:
- Cardiovascular Genetics
- Lipid Metabolism
Background:
- Familial hypercholesterolemia (FH) is a genetic disorder characterized by high low-density lipoprotein (LDL) cholesterol levels.
- Lipoprotein(a) [Lp(a)] is an independent risk factor for atherosclerotic cardiovascular disease.
- The relationship between Lp(a) and coronary heart disease (CHD) in FH patients with different LDL receptor mutations is not fully understood.
Purpose of the Study:
- To investigate plasma Lp(a) levels in genetically diagnosed FH patients.
- To analyze the association between Lp(a) levels, LDL receptor gene mutations, and the presence of CHD in FH.
- To identify potential risk factors for CHD in FH patients.
Main Methods:
- A study cohort included 90 heterozygous FH patients and 41 unaffected relatives.
- Plasma Lp(a), lipoprotein cholesterol, and triglyceride levels were measured.
- Patients were genotyped for LDL receptor mutations (null vs. defective alleles).
- Coronary heart disease (CHD) status was assessed in FH patients (FH CHD+ vs. FH CHD-).
Main Results:
- No significant differences in plasma Lp(a) levels were observed between FH patients and their unaffected relatives.
- Plasma Lp(a) levels did not differ between FH patients with null versus defective LDL receptor alleles.
- FH patients with CHD (FH CHD+) were older and had higher systolic blood pressure, diastolic blood pressure, and plasma triglyceride levels compared to FH patients without CHD (FH CHD-).
- No association was found between Lp(a) levels and CHD status in FH patients.
Conclusions:
- Plasma Lp(a) levels are not associated with LDL receptor gene status (null vs. defective mutations) in FH patients.
- Lp(a) levels are not a determinant of CHD presence in individuals with FH.
- Other risk factors, such as age, blood pressure, and triglyceride levels, may play a more significant role in CHD development in FH patients.
Background And Aim:
To analyze plasma Lp(a) levels and examine different risk factors and coronary heart disease (CHD) in a sample of genetically diagnosed familial hypercholesterolemia (FH) patients.
Methods And Results:
Ninety heterozygous FH patients and 41 non-FH relatives were enrolled in a study to evaluate their plasma and lipoprotein cholesterol, as well as their triglyceride and Lp(a) levels. We found no differences in plasma Lp(a) levels and log transformed values between 90 FH subjects and their 41 unaffected relatives (22.3 mg/dl +/- 19.4 vs 17.7 mg/dl +/- 21.3 and 1.12 +/- 0.5 vs 0.96 +/- 0.54) nor between null allele and defective allele FH subjects (log Lp (a) levels 2.013 +/- 0.282 vs 1.959 +/- 0.151). FH CHD+ were significantly older, and had higher mean systolic and diastolic blood pressure and higher mean plasma triglyceride levels than FH CHD-. No differences in mean and log transformed Lp(a) plasma concentrations were found.
Conclusions:
Plasma Lp(a) levels are not related to LDL receptor status and class mutations, nor to the presence of CHD in FH patients.