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A retrospective study of people with familial hypercholesterolaemia in a Belgian lipid clinic
V Ide1, D De Cock2, S Pazmino3
1Department of Endocrinology, University Hospitals Leuven, Leuven, Belgium.
Insights
Familial hypercholesterolaemia (FH) patients in Belgium are undertreated, with high LDL-C levels not meeting treatment targets. Combination therapy, including PCSK9 inhibitors, is crucial for lowering cholesterol and cardiovascular risk in FH.
Area of Science:
- Cardiology
- Genetics
- Metabolic Disorders
Background:
- Familial hypercholesterolaemia (FH) is a genetic disorder leading to high cholesterol and early cardiovascular events.
- Early diagnosis and intervention are key to reducing the cardiovascular burden associated with FH.
- This study characterizes patients with heterozygous FH managed at a Belgian tertiary hospital.
Purpose of the Study:
- To describe the clinical characteristics of patients with heterozygous FH.
- To assess the achievement of lipid-lowering treatment targets in this population.
- To identify factors influencing cholesterol levels and treatment outcomes.
Main Methods:
- Retrospective analysis of 321 patients with definite heterozygous FH.
- Data collected from the UZ Leuven lipid clinic between January 2016 and December 2020.
- Comparison of patient characteristics based on atherosclerotic disease status (primary vs. secondary prevention).
Main Results:
- Patients with atherosclerotic disease were older, more frequently male, and had higher BMI, diabetes, and hypertension prevalence.
- Average LDL-C levels in both primary and secondary prevention groups did not meet 2019 ESC/EAS guideline targets.
- PCSK9 inhibition therapy, particularly triple therapy, significantly reduced LDL-C levels.
Conclusions:
- Heterozygous FH patients in Belgium are often undertreated, with suboptimal LDL-C control.
- Achieving treatment targets necessitates combination therapy, including PCSK9 inhibitors, for most patients.
- Earlier diagnosis, intensified lipid-lowering strategies, improved reimbursement, and a holistic approach are essential for managing FH and reducing cardiovascular risk.
Background:
Familial hypercholesterolaemia (FH) is a genetic disease characterised by hypercholesterolaemia and premature cardiovascular events. Early diagnosis and treatment can reduce the cardiovascular burden. We describe the characteristics of patients with heterozygous FH followed in a tertiary hospital in Belgium.
Methods:
We retrospectively studied a population of 321 patients with definite heterozygous FH who visited the UZ Leuven lipid clinic at least once between 1 January 2016 and 31 December 2020. Data are represented as mean ± SD.
Results:
The age at time of diagnosis of FH was 39 ± 18 years. Patients with atherosclerotic disease (secondary prevention) were older (p < .001), more often male (p < .001), had a higher body mass index (p < .001), prevalence of (pre)diabetes (p < .001) and hypertension (p < .001) and had lower levels of low-density lipoprotein-cholesterol (LDL-C) (p < .001) than individuals without atherosclerotic disease (primary prevention). The average LDL-C in both primary (109 ± 53 mg/dL) and secondary (81 ± 63 mg/dL) prevention did not meet the targets of LDL-C as proposed by the 2019 ESC/EAS guidelines for the management of dyslipidaemias. However, LDL-C levels in the subgroup of patients treated with PCSK9 inhibition therapy, and especially in the triple therapy group (combination of statin, ezetimibe and PCSK9 inhibitor), were markedly lower (p < .001).
Conclusions:
In this Belgian population, people with heterozygous FH remain undertreated. Reaching treatment targets in FH seems possible, although this requires combination treatment (with PCSK9-targeted therapy) in most patients. Earlier diagnosis of FH, more extensive lipid-lowering treatment and reimbursement options and a more holistic approach are needed to lower LDL-C and cardiovascular risk in patients with FH.
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