Article
Glucose metabolism in heterozygous familial hypercholesterolemia with a founder effect and a high diabetes prevalence: a cross-sectional study.
Cardiovascular diabetology - 6 Aug 2025
González-Lleó Ana María, Brito-Casillas Yeray, Martín-Santana Virginia, Gil-Quintana Yaiza, Tugores Antonio, Scicali Roberto, Riaño Marta, Hernández-Baraza Luisa, Jiménez-Monzón Roberto, Girona Josefa, Di Giacomo Barbagallo Francesco, Masana Luis, Boronat Mauro, Wägner Ana M, Sánchez-Hernández Rosa M
Abstract excerpt
BACKGROUND: Heterozygous familial hypercholesterolemia (HeFH) is typically associated with a lower prevalence of type 2 diabetes mellitus (T2DM). However, individuals carrying the p.[Tyr400_Phe402del]LDLR mutation, which is prevalent in Gran Canaria, exhibit an unexpectedly high prevalence of T2DM. This study aimed to investigate whether the p.[Tyr400_Phe402del] LDLR mutation co-segregates with T2DM and other...
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