Article
Familial hypercholesterolemia: is it time to separate monogenic from polygenic familial hypercholesterolemia?
Current opinion in lipidology - 1 Jun 2020
Brandts Julia, Dharmayat Kanika I, Ray Kausik K, Vallejo-Vaz Antonio J
Abstract excerpt
PURPOSE OF REVIEW: This review explores the concepts of monogenic and the so-called polygenic familial hypercholesterolemia and how the identification of familial hypercholesterolemia as a monogenic condition and its separation from polygenic primary hypercholesterolemia may have implications for clinical practice. RECENT FINDINGS: Through genetic testing, a mutation in any of the three known autosomal dominant...
Topics
- Cholesterol, LDL
- Female
- Genetic Predisposition to Disease
- Genetic Testing
- Humans
- Hyperlipoproteinemia Type II
- Lipid Metabolism, Inborn Errors
- Male
- Multifactorial Inheritance
- Mutation
- Phenotype
- Risk Factors