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Genetic Testing and Risk Scores: Impact on Familial Hypercholesterolemia

28 Jan 2019

Abstract excerpt

Familial Hypercholesterolemia (FH) is an inherited lipid disorder affecting 1 in 220 individuals resulting in highly elevated low-density lipoprotein levels and risk of premature coronary disease. Pathogenic variants causing FH typically involve the LDL receptor (LDLR), apolipoprotein B-100 (APOB), and proprotein convertase subtulisin/kexin type 9 genes (PCSK9) and if identified convey a risk of early onset...

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PMID: 30761309
DOI: 10.3389/fcvm.2019.00005

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