Glucose metabolism in heterozygous familial hypercholesterolemia with a founder effect and a high diabetes prevalence: a cross-sectional study.

ABSTRACT:

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 glucose metabolism abnormalities.

Methods

A total of 226 individuals were recruited, with 196 included in the final analysis. This included 90 HeFH patients from Gran Canaria (HeFH-GC) carrying the p.[Tyr400_Phe402del]LDLR mutation, 76 first-degree relatives (non-HeFH), and 30 HeFH patients from Italy (HeFH-It) with other LDLR mutations. Clinical, anthropometric, biochem

SUBMITTER: Gonzalez-Lleo AM 

PROVIDER: S-EPMC12330011 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature