Glucose metabolism in heterozygous familial hypercholesterolemia with a founder effect and a high diabetes prevalence: a cross-sectional study
Authors' conclusion
HeFH patients from Gran Canaria exhibit a high prevalence of T2DM. The p.[Tyr400_Phe402del]LDLR mutation does not co-segregate with T2DM, but normoglycemic HeFH-GC individuals have greater insulin resistance. Additionally, lipid-lowering therapy, hypertension, hypertriglyceridemia, and increased waist circumference are factors associated with the prevalence of T2DM.
Study context
- Population
- Heterozygous familial hypercholesterolemia (HeFH) patients from Gran Canaria with the p.[Tyr400_Phe402del]LDLR mutation, first-degree relatives, and HeFH patients from Italy with other LDLR mutations196 analysed
- Participants
- 226 patients
- Exposure
- HeFH-GC vs non-HeFH first-degree relatives and vs HeFH-It
- HeFH-GCn = 90
- non-HeFHn = 76reference
- HeFH-Itn = 30
- Outcome
- Co-segregation of the p.[Tyr400_Phe402del]LDLR mutation with T2D and other glucose metabolism abnormalities
Main finding
As reported in the abstract
T2D prevalence
P = NS
Observational data: associations, not effects.
Further findings
mg/dL
| Outcome | HeFH-GC | HeFH-It | P value |
|---|---|---|---|
| Fasting glucoseHeFH-GC vs HeFH-It · higher with HeFH-GC | 99 | 92.5 | P = 0.004 |
| 120-min post-OGTT glucoseHeFH-GC vs HeFH-It · lower with HeFH-GC | 115 | 136.5 | P = 0.001 |
- HOMA-beta · HeFH-GC vs non-HeFH · 86.2 vs. 68.4; significantly greater in HeFH-GC
- P = 0.046
- HOMA-IR in normoglycemic individuals · HeFH-GC vs non-HeFH
- P = 0.008
- HOMA-IR in normoglycemic individuals: 2.0 (1.3-2.9) vs. 1.3 (1.0-1.9); elevated in normoglycemic HeFH-GC
Factors associated with T2D
- Lipid-lowering therapy, hypertension, hypertriglyceridemia and increased waist circumference were associated with T2D
Original publication
Glucose metabolism in heterozygous familial hypercholesterolemia with a founder effect and a high diabetes prevalence: a cross-sectional study. Cardiovasc Diabetol. Published 6 August 2025. doi:10.
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