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Published on: September 15, 2018
Why patients with familial hypercholesterolemia are at high cardiovascular risk? Beyond LDL-C levels
Vanessa Bianconi1, Maciej Banach2, Matteo Pirro1
1Unit of Internal Medicine, Department of Medicine, University of Perugia, Hospital "Santa Maria della Misericordia", Piazzale Menghini, 1, 06129 Perugia, Italy.
Insights
Familial hypercholesterolemia (FH) patients face high cardiovascular disease (CVD) risk. This review explores additional risk factors beyond LDL-C to personalize FH patient treatment.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Metabolic Disorders
Background:
- Familial hypercholesterolemia (FH) is a genetic disorder causing high LDL-C levels.
- Lifelong high LDL-C in FH patients significantly increases premature cardiovascular disease (CVD) risk.
- Variability in CVD event rates among FH patients suggests other risk factors are involved.
Purpose of the Study:
- To review the CVD risk burden in the FH population.
- To examine traditional and emerging CVD risk predictors in FH.
- To provide an overview of CVD risk stratification tools for personalized FH treatment.
Main Methods:
- Literature review of studies on Familial hypercholesterolemia.
- Analysis of cardiovascular disease risk factors in FH patients.
- Evaluation of risk stratification tools for FH management.
Main Results:
- FH patients have a substantially elevated risk of premature CVD.
- Factors beyond LDL-C levels influence CVD risk in FH.
- Various tools can aid in stratifying CVD risk for personalized FH care.
Conclusions:
- Understanding additional CVD risk modifiers is crucial for FH management.
- Personalized risk stratification can optimize treatment strategies for FH patients.
- Further research into emerging risk predictors may improve CVD event prediction in FH.
Abstract:
Familial hypercholesterolemia (FH) is a common genetic cause of elevated low-density lipoprotein cholesterol (LDL-C) due to defective clearance of circulating LDL particles. All FH patients are at high risk for premature cardiovascular disease (CVD) events due to their genetically determined lifelong exposure to high LDL-C levels. However, different rates of CVD events have been reported in FH patients, even among those with the same genetic mutations and comparable LDL-C levels. Hence, additional CVD risk modifiers, beyond LDL-C, may contribute to increase CVD risk in the FH population. In this review, we discuss the overall CVD risk burden of the FH population. Additionally, we revise the prognostic impact of several traditional and emerging predictors of CVD risk and we provide an overview of the role of specific tools to stratify CVD risk in FH patients in order to ensure them a more personalized treatment approach.
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