Lipids & metabolic liver disease
Evaluation of glycemic status and subclinical atherosclerosis in familial hypercholesterolemia subjects with or without LDL receptor mutation
Authors' conclusion
FH subjects with NLDLR mutations exhibited a worse glycemic profile, while null LDLR mutations showed the strongest inverse association with HGS. The integrations of genetic, lipid and glucose data could be useful to better identify the metabolic profile and the atherosclerosis distribution in FH subjects.
Study context
- Population
- Familial hypercholesterolemia (FH) subjects not on lipid-lowering therapy and without history of CVD
- Participants
- 322 participants
- Exposure
- FH with LDLR mutation vs without LDLR mutation
- Outcome
- Glycemic status (low/high) and subclinical atherosclerosis by genotype
Main finding
As reported in the abstract
Low glycemic status (LGS)
P < 0.01
Observational data: associations, not effects.
Further findings
High glycemic status (HGS)
P < 0.01
Peripheral atherosclerotic plaques
P < 0.05
Coronary artery calcification (CAC) presence
P < 0.01
Secondary analysis by LDLR genotype (NLDLR, LDLR defective, LDLR null)
- Low glycemic status (LGS) prevalence progressively increased from NLDLR to LDLR null; High glycemic status (HGS) inverse trend
- P for trend < 0.05
- Peripheral plaque prevalence decreased from NLDLR to LDLR null
- P for trend < 0.05
- Coronary artery calcification (CAC) prevalence increased progressively across the three groups
- P for trend < 0.01
- Logistic regression: FH groups with LDLR mutation inversely associated with HGS; strongest for LDLR null
- p for both < 0.01
- Secondary analysis
Original publication
Evaluation of glycemic status and subclinical atherosclerosis in familial hypercholesterolemia subjects with or without LDL receptor mutation. Cardiovasc Diabetol. Published 20 March 2025. doi:10.
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