Table 5 Top new insights into dyslipidemia from experience with LipidSeq panel
Insight | Reference |
|---|---|
About 50% of referred patients thought to have heterozygous FH with LDL cholesterol > 5 mmol/L (> 190 mg/dL) had a likely causative rare variant. This rises to > 90% for patients with LDL cholesterol > 8 mmol/L (> 310 mg/dL). | [44] |
About 10% of rare variants causing HeFH are CNVs of the LDLR gene. | [32] |
A whole-gene duplication of PCSK9 is a novel, rare cause of HeFH. | [43] |
At least 20% of suspected HeFH patients without rare variants have a high LDL cholesterol polygenic SNP score. | [44] |
PCSK9 inhibitors are equally effective in patients with either monogenic or polygenic severe hypercholesterolemia. | [49] |
Severe hypertriglyceridemia is mostly defined by rare heterozygous variants and a high triglyceride polygenic SNP score. | [45] |
The clinical phenotype in monogenic chylomicronemia is essentially identical irrespective of underlying causative genes and variants. | [50] |
Hypoalphalipoproteinemia is usually polygenic, comprising both rare heterozygous variants and a high HDL cholesterol polygenic SNP score. | [55] |