Research into familial hypercholesterolemia (FH) is undergoing a remarkable evolution. Initially, FH was a Nobel Prize-winning archetype for Mendelian disorders that affect cardiovascular health. However, recent studies on FH have demonstrated a great deal of variety in the genetic substrate and in phenotypic presentation, with the interaction of these two factors determining the clinical outcome. The era of molecular medicine in cardiovascular medicine and elucidation of the pathways responsible for elevated low density lipoprotein cholesterol has led to an increased range of therapeutic tools against cardiovascular disease events in FH and beyond. This special issue will focus on emerging aspects of FH management relating to identification, therapy in general and special populations, confounders of elevated LDL-c, and new therapies in FH.
Familial Hypercholesterolemia: Emerging aspects
1. Genetic architecture of very elevated LDL-c: implications of genotype-phenotype discordance
2. Screening advances for FH: population, cascade, reverse cascade
3. Management modifications in Special populations: Women, children, transgender
4. Standard therapeutics with statins and ezetimibe: state of the evidence
5. PCSK9 inhibition: FH standard care? At what cost?
6. Bempedoic Acid in high LDL-c: ranking management
7. ANGPTL3 for FH: wrong pathway, right outcome?
8. Lomitapide and mipomersen: What, who, and when?
9. Mistaken identity: confounding from lipoprotein(a) and remnant LDL-c
Assoc. Prof. Justin P. V. Zachariah
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