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Published on: September 15, 2018
Familial Hypercholesterolemia and Lipoprotein(a): Two Partners in Crime?
Rodrigo Alonso1,2, Rosa Argüeso3, Pilar Álvarez-Baños4
1Center for Advanced Metabolic Medicine and Nutrition, Av. Las Condes 9460, of 501. , Santiago, Chile. rodrigoalonsok@gmail.com.
Insights
Familial hypercholesterolemia significantly increases cardiovascular risk, especially when combined with high lipoprotein(a) levels. Measuring lipoprotein(a) helps identify high-risk individuals needing intensified treatment.
Area of Science:
- Cardiology
- Genetics
- Metabolic Disorders
Background:
- Familial hypercholesterolemia (FH) is a genetic disorder causing high cholesterol and increased cardiovascular risk.
- Elevated lipoprotein(a) [LPA] is an independent risk factor for atherosclerosis and aortic valve stenosis.
Purpose of the Study:
- To review the role of lipoprotein(a) in cardiovascular risk and aortic valve stenosis within the context of familial hypercholesterolemia.
- To explore the association between lipoprotein(a) and FH phenotype.
- To discuss strategies for identifying high-risk individuals with both conditions.
Main Methods:
- Literature review focusing on studies investigating lipoprotein(a) in familial hypercholesterolemia.
- Analysis of existing data on cardiovascular outcomes, aortic valve stenosis, and genetic variants related to LPA.
- Evaluation of current screening and management guidelines.
Main Results:
- Patients with FH often have higher LPA levels due to increased frequency of LPA variants.
- The coexistence of FH and high LPA doubles cardiovascular risk.
- High LPA is associated with increased risk of aortic valve stenosis and the need for valve replacement.
Conclusions:
- Elevated LPA significantly exacerbates cardiovascular risk in familial hypercholesterolemia patients.
- Measuring LPA during FH cascade screening is crucial for identifying high-risk individuals.
- Early identification allows for intensified LDL-cholesterol reduction pending LPA-specific therapies.
Purpose Of Review:
Familial hypercholesterolemia is a high cardiovascular risk disorder. We will review the role of lipoprotein(a) in cardiovascular risk and in aortic valve stenosis in familial hypercholesterolemia, as well as its association with their phenotype, and strategies to identify this high-risk population.
Recent Findings:
Patients with familial hypercholesterolemia have higher lipoprotein(a) levels mainly due to an increased frequency of LPA variants, and the cardiovascular risk is increased twofolds when both conditions coexist. Also, an increased risk for aortic valve stenosis and valve replacement has been observed with high lipoprotein(a) levels. Assessment of lipoprotein(a) during the cascade screening for familial hypercholesterolemia is a good opportunity to identify this high-risk population. High cardiovascular risk in familial hypercholesterolemia is increased even more when lipoprotein(a) is also elevated. Measurement of lipoprotein(a) in these patients is crucial to identify those subjects who need to intensify LDL-cholesterol reduction pending availability of lipoprotein(a)-specific treatments.
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