Significance of Clinical and Genetic Signatures of Familial Hypercholesterolemia Among Patients With Severe Hypercholesterolemia
Authors' conclusion
Among patients with severe hypercholesterolemia, clinical and genetic signatures of FH are useful for risk discrimination for CAD beyond their hypercholesterolemia.
Study context
- Population
- Patients aged ≥15 years with severe hypercholesterolemia (low density lipoprotein (LDL) cholesterol ≥180 mg/dL) admitted to Kanazawa University Hospital, 2000–2022male, n = 631
- Participants
- 1,273 patients
- Exposure
- Clinical signs of familial hypercholesterolemia (FH) and/or FH-variant vs no signs of FH
- Outcome
- CAD events
- Follow-up
- 12.4-year median
Methodological detailssingle-centre
- Single-centre
Main finding
As reported in the abstract
Each group vs no signs of FHHazard ratio (95% CI)P value
FH-variant
1.44(1.02–1.86)
P = 0.007Clinical signs of FH
2.27(1.41–3.13)
P < 0.001Clinical signs of FH and FH-variant
5.02(2.60–7.44)
P < 0.001- Coronary artery disease (CAD) events
- 144
Observational data: associations, not effects.
Further findings
Baseline LDL cholesterol
- Higher in patients with any signs of FH than non-FH patients
Original publication
Significance of Clinical and Genetic Signatures of Familial Hypercholesterolemia Among Patients With Severe Hypercholesterolemia. JACC Adv. Published 3 November 2025. doi:10.
Summarised from the published abstract; every number is checked against it