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.

Luís Masana,Irene R Dégano,Marc Comas-Cufí,Núria Plana,Lia Alves-Cabratosa,Rafel Ramos,Alberto Zamora,Ruth Martí-Lluch,Maria Garcia-Gil,Roberto Elosua,Anna Ponjoan,Jaume Marrugat

doi:10.3390/jcm8071080

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.

Highlights

Familial Hypercholesterolemia (FH) is a genetic disorder characterized by high LDL cholesterol (LDL-C) plasma concentrations that leads to accelerate arteriosclerotic cardiovascular disease (ASCVD)
We observed that patients with familial hypercholesterolemia (FH)-P had notably increased risks for atherosclerotic cardiovascular diseases (ASCVD) compared to the normolipidemic population
The increase of risk was markedly high in young individuals, younger than 35 years, reaching seven-fold for premature ASCVD in primary prevention and two-fold in secondary prevention

Summary

Introduction

Familial Hypercholesterolemia (FH) is a genetic disorder characterized by high LDL cholesterol (LDL-C) plasma concentrations that leads to accelerate arteriosclerotic cardiovascular disease (ASCVD). A recent re-evaluation of the WOSCOPS study showed that participants with LDL-C levels above 190 mg/dL had twice the incidence predicted by a standard risk evaluation [3]. The EUROASPIRE IV study reported clinically definite FH in about 8% of patients with coronary artery disease (CAD) and 20% among those with early presentation [6]. These patients are usually diagnosed around the fourth decade of life, i.e., after 40 years of hypercholesterolemia [2]

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