Management and Consequences of Genotype-Positive Familial Hypercholesterolemia - PubMed
3 days ago
- #Genotype-Positive
- #Familial Hypercholesterolemia
- #Lipid-Lowering Therapy
- Familial hypercholesterolemia (FH) is a genetic condition causing hypercholesterolemia and increased risk for premature atherosclerotic cardiovascular disease (ASCVD).
- Prevalence of genotype-positive FH in the All of Us (AoU) cohort was 0.35% (1 in 287 participants).
- 40% of genotype-positive FH participants were prescribed statins, and 38.4% had LDL-C measured.
- Genotype-positive FH carriers had significantly higher rates of coronary artery disease, peripheral artery disease, and transient ischemic attack or stroke compared to noncarriers.
- Only 30.1% of genotype-positive FH participants had LDL-C <100 mg/dL, compared to 48.2% of noncarriers.
- Fewer individuals with FH met secondary prevention LDL-C targets (<70 mg/dL) compared to noncarriers (19.33% vs 43.12%).
- The study highlights the need for better lipid-lowering management in genotype-positive FH individuals to meet guideline-recommended LDL-C targets.