Management and Consequences of Genotype-Positive Familial Hypercholesterolemia
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.
Authors
- P Natarajan
- Sarah Urbut (ORCID: https://orcid.org/0000-0002-1135-9647)
- Catherine Spinks (ORCID: https://orcid.org/0000-0002-0833-1299)
- Buu Minh Thanh Truong (ORCID: https://orcid.org/0000-0003-0043-0812)
- Christopher P. Robinson (ORCID: https://orcid.org/0000-0003-3475-089X)
- Kaavya Paruchuri
- Gina M. Peloso
- Whitney Hornsby
- Margaret Sunitha Selvaraj
- Courtney Gwynne
Institutions
- Broad Institute (US)
- Boston University (US)
- Harvard University (US)
- Garvan Institute of Medical Research (AU)
- VA Boston Healthcare System (US)
- Massachusetts General Hospital (US)
Publication Details
- Journal
- JAMA Cardiology
- Published
- 2026-03-04
- DOI
- https://doi.org/10.1001/jamacardio.2026.0006
- Primary Topic
- Lipoproteins and Cardiovascular Health
- Type
- article
- Field-Weighted Citation Impact
- 0.00