Abstract 12011: Severe Heterozygous Familial Hypercholesterolaemia in the Netherlands: Prevalence and Risk for Cardiovascular Disease
Introduction: Low-density lipoprotein cholesterol (LDL-C) levels vary widely amongst patients with heterozygous familial hypercholesterolaemia (HeFH), and patients with the highest LDL-C levels are considered to suffer from ‘severe HeFH’. However, no uniform definition of severe HeFH exists, and its prevalence is unknown. Furthermore, current definitions use invariable LDL-C cut-off values in men and women of different ages, while LDL-C levels vary within.
Aim: We aim to define ‘severe HeFH’, based on age and gender specific LDL-C percentiles, and to assess its prevalence as well as the cardiovascular disease (CVD) risk in these patients compared to non-severe HeFH patients.
Methods: Patients with molecularly proven HeFH identified by the FH screening program in the Netherlands, comprised our study population. Age- and gender specific percentiles of untreated LDL-C were determined. We established the cut-off value for severe HeFH as the percentile corresponding to 8 mmol/L in men of 36-40 years, since patients in this category are most frequently represented in previous studies of severe FH. We transposed this percentile to the remainder of the total population and patients with an untreated LDL-C on or above this specific percentile were considered as having severe HeFH.
Multivariable logistic regression analysis was used to evaluate the association between severe HeFH and CVD.
Results: Our study population consisted of 13,690 patients with HeFH. In males between 36-40 years, the 90th percentile corresponded to 8 mmol/L. By using this percentile, the prevalence of severe HeFH in our study population was 10.9%. Combined with an estimated prevalence of HeFH of 1:300 in the Netherlands, 1 in 2,700 Dutch will suffer severe HeFH. These patients are at increased CVD risk compared to non-severe HeFH patients, independent from hypertension, diabetes, smoking and BMI (OR; 1.28 [95%-CI: 1.05 - 1.57, p=0.02]).
Conclusions: Based on our definition, we estimate the prevalence of severe HeFH in the Netherlands 1:2,700. These patients are at severely increased risk for CVD and should have aggressive lipid-lowering treatment from young age onwards.
- © 2013 by American Heart Association, Inc.