Prevention & lipidsCohort study
Management and Consequences of Genotype-Positive Familial Hypercholesterolemia
- Cohort study
- national US cohort
- whole-genome sequencing
Authors' conclusion
This cohort study finds a prevalence of genotype-positive FH in All of Us participants of 0.35% (95% CI, 0.33%-0.38%), with state-level variation. A minority of individuals with genotype-positive FH met guideline-recommended LDL-C targets and had increased rates of ASCVD.
Study context
- Population
- US adults in the All of Us cohort, enrolled May 2018–July 2022
- Participants
- 245,388 adults
- Exposure
- Genotype-positive familial hypercholesterolemia (FH) carriers vs noncarriers
- FHn = 865
- Outcome
- Demographics, lipid measurements, atherosclerotic cardiovascular disease (ASCVD) and prevalence of FH
Main finding
As reported in the abstract
Prevalence of genotype-positive FH
| Group | Value | Frequency |
|---|---|---|
| FH | 0.35% (95% CI 0.33%–0.38%) | 1 in 287 participants |
Observational data: associations, not effects.
Further findings
| Outcome | OR (95% CI) | P value | |
|---|---|---|---|
| ASCVD (FH vs noncarriers) · CAD | 2.91 (2.34–3.58) | ||
| ASCVD (FH vs noncarriers) · PAD | 1.51 (1.16–1.96) | ||
| ASCVD (FH vs noncarriers) · TIA or stroke | 1.54 (1.11–2.09) | ||
| 0.20.5125Odds ratio (log scale) |
LDL-C <100 mg/dL at most recent result
P < 0.001
Secondary prevention LDL-C target <70 mg/dL (ASCVD with LLT prescription)
P < 0.001
- Lipid management in FH
- 349 (40%) · Prescribed statins · low-density lipoprotein cholesterol (LDL-C) measured 332 (38.4%)
Original publication
Management and Consequences of Genotype-Positive Familial Hypercholesterolemia. JAMA Cardiol. Published 1 April 2026. doi:10.1001/jamacardio.2026.0006
Summarised from the published abstract; every number is checked against it