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J Clin Med. 2019 Jul 23;8(7). pii: E1080. doi: 10.3390/jcm8071080.

Incidence of Cardiovascular Disease in Patients with Familial Hypercholesterolemia Phenotype: Analysis of 5 Years Follow-Up of Real-World Data from More than 1.5 Million Patients.

Masana L1,2,3, Zamora A3,4,5,6,7, Plana N1,2,3, Comas-Cufí M8,9, Garcia-Gil M8,9, Martí-Lluch R8,9,10, Ponjoan A8,9,10, Alves-Cabratosa L8,9,10, Elosua R6,11,12, Marrugat J6,11, Dégano IR6,11, Ramos R13,14,15,16.

Author information

1
Lipids and Arteriosclerosis Research Unit, Sant Joan University Hospital, 43204 Reus, Catalonia, Spain.
2
Internal Medicine Department, IISPV, Universitat Rovira I Virgili, CIBERDEM, 43002 Reus, Catalonia, Spain.
3
Xarxa de Unitats de Lipids de Catalunya (XULA), 17300 Girona, Catalonia, Spain.
4
Lipids and Arteriosclerosis Unit, Blanes Hospital, 17300 Girona, Catalonia, Spain.
5
Department of Medical Sciences, School of Medicine, University of Girona, 17071 Girona, Catalonia, Spain.
6
CIBER of Cardiovascular Diseases (CIBERCV), 08003 Barcelona, Catalonia, Spain.
7
Laboratory of Translational Medicine (Translab), School of Medicine, University of Girona, 17071 Girona, Catalonia, Spain.
8
Institut Universitari d'Investigació en Atenció Primària Jordi Gol (IDIAPJGol), 08007 Barcelona, Catalonia, Spain.
9
ISV Research Group, Research Unit in Primary Care, Primary Care Services, Girona, Catalan Institute of Health (ICS), 17002 Girona, Catalonia, Spain.
10
Biomedical Research Institute, Girona (IdIBGi), ICS, 17190 Girona, Catalonia, Spain.
11
Registre Gironí del COR (REGICOR) Group, Cardiovascular, Epidemiology and Genetics Research Group (EGEC), Municipal Institute for Medical Research (IMIM), 08003 Barcelona, Catalonia, Spain.
12
Faculty of Medicine, University of Vic-Central University of Catalonia (UVic-UCC), 08500 Vic, Catalonia, Spain.
13
Department of Medical Sciences, School of Medicine, University of Girona, 17071 Girona, Catalonia, Spain. rramos.girona.ics@gencat.cat.
14
Institut Universitari d'Investigació en Atenció Primària Jordi Gol (IDIAPJGol), 08007 Barcelona, Catalonia, Spain. rramos.girona.ics@gencat.cat.
15
ISV Research Group, Research Unit in Primary Care, Primary Care Services, Girona, Catalan Institute of Health (ICS), 17002 Girona, Catalonia, Spain. rramos.girona.ics@gencat.cat.
16
Biomedical Research Institute, Girona (IdIBGi), ICS, 17190 Girona, Catalonia, Spain. rramos.girona.ics@gencat.cat.

Abstract

In the statin era, the incidence of atherosclerotic cardiovascular diseases (ASCVD) in patients with familial hypercholesterolemia (FH) has not been updated. We aimed to determine the incidence of ASCVD in patients with FH-phenotype (FH-P) and to compare it with that of normal low-density lipoprotein cholesterol (LDL-C) patients. We performed a retrospective cohort study using the Database of the Catalan primary care system, including ≥18-year-old patients with an LDL-C measurement. From 1,589,264 patients available before 2009, 12,823 fulfilled FH-P criteria and 514,176 patients were normolipidemic (LDL-C < 115 mg/dL). In primary prevention, patients with FH-P had incidences of ASCVD and coronary heart disease (CHD) of 14.9/1000 and 5.8/1000 person-years, respectively, compared to 7.1/1000 and 2.1/1000 person-years in the normolipidemic group. FH-P showed hazard ratio (HR) of 7.1 and 16.7 for ASCVD and CHD, respectively, in patients younger than 35 years. In secondary prevention, patients with FH-P had incidences of ASCVD and CHD of 89.7/1000 and 34.5/1000 person-years, respectively, compared to 90.9/1000 and 28.2/1000 person-years in the normolipidemic group (HR in patients younger than 35 years: 2.4 and 6.0). In the statin era, FH-P remains associated with high cardiovascular risk, compared with the normolipidemic population. This excess of risk is markedly high in young individuals.

KEYWORDS:

Familial Hypercholesterolemia; atherosclerosis; cardiovascular diseases; incidence; prevention; real-world data; risk assessment

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