Management and Consequences of Genotype-Positive Familial Hypercholesterolemia

Are cholesterol levels managed to address atherosclerotic cardiovascular disease (ASCVD) risk in those with genotype-positive familial hypercholesterolemia (FH) in a large US cohort?In this cohort study, a genome-first approach including , and gene curation identified 865 individuals (1 in 287) with genotype-positive FH. Individuals with genotype-positive FH had higher low-density lipoprotein cholesterol (LDL-C) levels, were significantly more likely to have ASCVD, and fewer met primary and secondary prevention LDL-C targets, even when prescribed lipid-lowering therapy than those who were genotype negative.Genotype-positive FH was common in a large US-based cohort, was associated with higher rates of ASCVD, and only a minority of individuals met guideline-recommended LDL-C targets.

Corresponding Author: Pradeep Natarajan, MD, MMSc, Massachusetts General Hospital, 185 Cambridge St, CPZN 5.238, Boston, MA 02114 (pnatarajan@mgh.harvard.edu).

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