Clinical management of heterozygous familial hypercholesterolemia in a Polish outpatient metabolic clinic: a retrospective observational study

Abstract

Introduction: There are currently no reports available from a Polish clinical practice on heterozygous familial hypercholesterolemia (HeFH) management. The aim of this study was to test the efficacy of HeFH hypolipidemic treatment in a Polish outpatient metabolic clinic according to treatment targets outlined in the European Atherosclerosis Society (EAS) and European Society of Cardiology (ESC) guidelines.

Material and methods: This retrospective, observational study was performed on HeFH patients who attended their routine follow-up visits in the metabolic outpatient clinic in the period between April and September 2016. According to EAS/ESC guidelines, the goal and intensity of therapy were assigned individually for every patient based on cardiovascular (CV) risk (high or very high). The treatment target was achievement of low-density lipoprotein cholesterol (LDL-C) levels < 1.8 mmol/l for very high CV risk patients and < 2.6 mmol/l for high CV risk patients. A ≥ 50% decrease in LDL-C over the observation period was an additional outcome measure.

Results: In the overall group of 222 HeFH patients (mean age: 55.2 ±16.2 years, 72% women), LDL-C levels decreased on average by 52.6% (p < 0.001). More than half of the patients were treated with the maximum tolerated dose of statins. A total of 25.2% of patients attained target levels of LDL-C and 55.9% attained a ≥ 50% reduction in its concentration. Despite therapy, significantly elevated post-follow-up levels of LDL-C (> 4.1 mmol/l) remained in 14% of all patients.

Conclusions: Hypolipidemic therapy according to EAS/ESC guidelines was suboptimal for a significant number of HeFH patients. Additional clinical management should be considered.

Keywords: efficacy; familial hypercholesterolemia; lipid-lowering therapy; outpatient clinic.

Figure 1

Distribution of initial and post-follow-up serum LDL-C molar concentration levels in patients treated with different statin regimens. A – Overall population. B – High cardiovascular risk subpopulation. C – Very high cardiovascular risk subpopulation. Median values (50^th percentile) are shown as bands inside each box. The box top–bottom values are defined by the 25^th (Q1) and 75^th (Q3) percentile. The ends of the whiskers represent the values less than or greater than the median by the value of 3 times the difference between the median and corresponding quartile (Q1 or Q3). Outliers are defined as numbers less than or greater than the median by more than 3 times the difference between the median and corresponding quartile (Q1 or Q3). They are shown as transparent circles