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Article

Management and Consequences of Genotype-Positive Familial Hypercholesterolemia.

JAMA cardiology - 1 Apr 2026

Spinks Catherine, Selvaraj Margaret Sunitha, Robinson Christopher, Peloso Gina M, Gwynne Courtney, Urbut Sarah, Truong Buu, Paruchuri Kaavya, Hornsby Whitney, Natarajan Pradeep

Abstract excerpt

Importance: Familial hypercholesterolemia (FH) is a common genetic condition that causes hypercholesterolemia and increased risk for premature atherosclerotic cardiovascular disease (ASCVD). The prevalence, management, and consequences of genetically confirmed FH across the US are poorly understood. Objective: To identify genotype-positive FH in a national US cohort and describe its prevalence, consequences, and...

Topics

Humans
Female
Hyperlipoproteinemia Type II
Middle Aged
Genotype
Male
Cholesterol, LDL
Proprotein Convertase 9
Prevalence
United States
Receptors, LDL

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hydroxymethylglutaryl-CoA Reductase Inhibitors

Anticholesteremic Agents

Apolipoprotein B-100

Source

Open in PubMed Open full text

Identifiers

PMID: 41779414
DOI: 10.1001/jamacardio.2026.0006
PMCID: PMC12961599

Genes

FH
APOB
LDLR
PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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