Clinical and genetic differences between heterozygous familial hypercholesterolemia patients with and without type 2 diabetes

Introduction and objectives: The lower prevalence of type 2 diabetes mellitus (T2DM) in patients with heterozygous familial hypercholesterolemia (HeFH) could explain why T2DM has not always been identified as an independent predictor of cardiovascular disease (CVD) in different familial hypercholest...

Descripción completa

Detalles Bibliográficos
Autores: Climent E, Pérez-Calahorra S, Benaiges D, Pintó X, Suárez-Tembra M, Plana N, Sánchez-Hernández RM, Valdivielso P, Ascaso JF, Pedro-Botet J
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2020
País:España
Institución:INCLIVA
Repositorio:r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
OAI Identifier:oai:incliva.fundanetsuite.com:p4149
Acceso en línea:https://incliva.portalinvestigacion.com/publicaciones/4149
Access Level:acceso abierto
Palabra clave:Cardiovascular disease
Genetic factors
Heterozygous familial
hypercholesterolemia
Hypercholesterolemia
Type 2 diabetes mellitus
Descripción
Sumario:Introduction and objectives: The lower prevalence of type 2 diabetes mellitus (T2DM) in patients with heterozygous familial hypercholesterolemia (HeFH) could explain why T2DM has not always been identified as an independent predictor of cardiovascular disease (CVD) in different familial hypercholesterolemia cohort studies. The aim of the present study was to evaluate clinical and genetic aspects of HeFH patients with T2DM in the dyslipidemia registry of the Spanish Arteriosclerosis Society. Methods: HeFH patients were classified according to the presence or absence of T2DM. The clinical, biochemical and genetic characteristics of the 2 groups were compared. Results: Of the 2301 patients with primary hypercholesterolemia included in the registry, 1724 with a probable or definite diagnosis according to the Dutch Lipid Clinic Network score were finally included. HeFH patients with T2DM had a higher rate of CVD and a less favorable lipid profile, with higher total cholesterol (366.9 +/- 86.7 mg/dL vs 342.0 +/- 74.7 mg/dL; mean difference 24.894; 95%CI, 5.840-43.949) and non-high-density lipoprotein cholesterol (316.9 +/- 87.8 mg/dL vs 286.4 +/- 75.4 mg/dL; mean difference 30.500; 95%CI, 11.211-49.790) levels. No significant differences were found between the groups concerning the specific type of HeFH-causing mutation (P = .720). After adjustment for major risk factors, logistic regression analysis confirmed a relationship between T2DM and the presence of CVD (OR, 2.01; 95%CI, 1.18-3.43; P = .010). Conclusions: HeFH patients with T2DM have a higher rate of CVD and a less favorable lipid profile, regardless of genetic mutation type. In these patients, T2DM is associated with the presence of CVD. (C) 2019 Sociedad Espanola de Cardiologia. Published by Elsevier Espana, S.L.U. All rights reserved.