Elisenda Climent1, Sofía Pérez-Calahorra2, David Benaiges3, Xavier Pintó4, Manuel Suárez-Tembra5, Nuria Plana6, Rosa M Sánchez-Hernández7, Pedro Valdivielso8, Juan F Ascaso9, Juan Pedro-Botet10. 1. Servicio Endocrinología y Nutrición, Hospital del Mar, Barcelona, Spain; Departamento de Medicina, Universitat Autònoma de Barcelona, Campus Universitari Mar, Barcelona, Spain. 2. Unidad Clínica e Investigación en Lípidos y Arteriosclerosis, Hospital Universitario Miguel Servet, IIS Aragón, CIBERCV, Zaragoza, Spain. 3. Servicio Endocrinología y Nutrición, Hospital del Mar, Barcelona, Spain; Departamento de Medicina, Universitat Autònoma de Barcelona, Campus Universitari Mar, Barcelona, Spain; Institut Hospital del Mar d'Investigacions Mèdiques (IMIM), Barcelona, Spain. 4. Unidad de Lípidos y Riesgo Cardiovascular, Servicio de Medicina Interna, Hospital Universitario Bellvitge, L'Hospitalet de Llobregat, Barcelona, Spain. 5. Unidad de Lípidos y Riesgo Cardiovascular, Hospital San Rafael, A Coruña, Spain. 6. Unidad de Lípidos (UVASMET), Hospital San Joan de Reus, Tarragona, Spain. 7. Unidad de Lípidos, Hospital Universitario Insular, Las Palmas de Gran Canaria, Las Palmas, Spain. 8. Unidad de Lípidos, Hospital Universitario Virgen de la Victoria, Málaga, Spain. 9. Unidad de Lípidos, Hospital Clínico Universitario de Valencia, Valencia, Spain. 10. Servicio Endocrinología y Nutrición, Hospital del Mar, Barcelona, Spain; Departamento de Medicina, Universitat Autònoma de Barcelona, Campus Universitari Mar, Barcelona, Spain; Institut Hospital del Mar d'Investigacions Mèdiques (IMIM), Barcelona, Spain. Electronic address: 86620@parcdesalutmar.cat.
Abstract
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±86.7mg/dL vs 342.0±74.7mg/dL; mean difference 24.894; 95%CI, 5.840-43.949) and non-high-density lipoprotein cholesterol (316.9±87.8mg/dL vs 286.4±75.4mg/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.
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±86.7mg/dL vs 342.0±74.7mg/dL; mean difference 24.894; 95%CI, 5.840-43.949) and non-high-density lipoprotein cholesterol (316.9±87.8mg/dL vs 286.4±75.4mg/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.