PMID- 31672559 OWN - NLM STAT- MEDLINE DCOM- 20210419 LR - 20210419 IS - 1885-5857 (Electronic) IS - 1885-5857 (Linking) VI - 73 IP - 9 DP - 2020 Sep TI - Clinical and genetic differences between heterozygous familial hypercholesterolemia patients with and without type 2 diabetes. PG - 718-724 LID - S1885-5857(19)30262-2 [pii] LID - 10.1016/j.rec.2019.09.001 [doi] AB - 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. CI - Copyright (c) 2019 Sociedad Espanola de Cardiologia. Published by Elsevier Espana, S.L.U. All rights reserved. FAU - Climent, Elisenda AU - Climent E AD - Servicio Endocrinologia y Nutricion, Hospital del Mar, Barcelona, Spain; Departamento de Medicina, Universitat Autonoma de Barcelona, Campus Universitari Mar, Barcelona, Spain. FAU - Perez-Calahorra, Sofia AU - Perez-Calahorra S AD - Unidad Clinica e Investigacion en Lipidos y Arteriosclerosis, Hospital Universitario Miguel Servet, IIS Aragon, CIBERCV, Zaragoza, Spain. FAU - Benaiges, David AU - Benaiges D AD - Servicio Endocrinologia y Nutricion, Hospital del Mar, Barcelona, Spain; Departamento de Medicina, Universitat Autonoma de Barcelona, Campus Universitari Mar, Barcelona, Spain; Institut Hospital del Mar d'Investigacions Mediques (IMIM), Barcelona, Spain. FAU - Pinto, Xavier AU - Pinto X AD - Unidad de Lipidos y Riesgo Cardiovascular, Servicio de Medicina Interna, Hospital Universitario Bellvitge, L'Hospitalet de Llobregat, Barcelona, Spain. FAU - Suarez-Tembra, Manuel AU - Suarez-Tembra M AD - Unidad de Lipidos y Riesgo Cardiovascular, Hospital San Rafael, A Coruna, Spain. FAU - Plana, Nuria AU - Plana N AD - Unidad de Lipidos (UVASMET), Hospital San Joan de Reus, Tarragona, Spain. FAU - Sanchez-Hernandez, Rosa M AU - Sanchez-Hernandez RM AD - Unidad de Lipidos, Hospital Universitario Insular, Las Palmas de Gran Canaria, Las Palmas, Spain. FAU - Valdivielso, Pedro AU - Valdivielso P AD - Unidad de Lipidos, Hospital Universitario Virgen de la Victoria, Malaga, Spain. FAU - Ascaso, Juan F AU - Ascaso JF AD - Unidad de Lipidos, Hospital Clinico Universitario de Valencia, Valencia, Spain. FAU - Pedro-Botet, Juan AU - Pedro-Botet J AD - Servicio Endocrinologia y Nutricion, Hospital del Mar, Barcelona, Spain; Departamento de Medicina, Universitat Autonoma de Barcelona, Campus Universitari Mar, Barcelona, Spain; Institut Hospital del Mar d'Investigacions Mediques (IMIM), Barcelona, Spain. Electronic address: 86620@parcdesalutmar.cat. LA - eng LA - spa PT - Journal Article DEP - 20191028 PL - Spain TA - Rev Esp Cardiol (Engl Ed) JT - Revista espanola de cardiologia (English ed.) JID - 101587954 SB - IM MH - *Diabetes Mellitus, Type 2/complications/epidemiology/genetics MH - Heterozygote MH - Humans MH - *Hypercholesterolemia MH - Hyperlipoproteinemia Type II/complications/diagnosis/epidemiology MH - Risk Factors OTO - NOTNLM OT - Cardiovascular disease OT - Diabetes mellitus tipo 2 OT - Enfermedad cardiovascular OT - Factores geneticos OT - Genetic factors OT - Heterozygous familial hypercholesterolemia OT - Hipercolesterolemia OT - Hipercolesterolemia familiar heterocigota OT - Hypercholesterolemia OT - Type 2 diabetes mellitus EDAT- 2019/11/02 06:00 MHDA- 2021/04/20 06:00 CRDT- 2019/11/02 06:00 PHST- 2019/03/02 00:00 [received] PHST- 2019/08/01 00:00 [accepted] PHST- 2019/11/02 06:00 [pubmed] PHST- 2021/04/20 06:00 [medline] PHST- 2019/11/02 06:00 [entrez] AID - S1885-5857(19)30262-2 [pii] AID - 10.1016/j.rec.2019.09.001 [doi] PST - ppublish SO - Rev Esp Cardiol (Engl Ed). 2020 Sep;73(9):718-724. doi: 10.1016/j.rec.2019.09.001. Epub 2019 Oct 28.