A retrospective study of people with familial hypercholesterolaemia in a Belgian lipid clinic

Abstract

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.

Keywords:

• Familial hypercholesterolaemia (FH)
• cardiovascular risk
• cardiovascular disease
• lipid-lowering therapy

Disclosure statement

Roman Vangoitsenhoven has served on the speakers bureau for Goodlife Pharma, Novo Nordisk and Sanofi. He has participated in scientific advisory boards of Boehringer Ingelheim and Sanofi. Financial compensation for these activities has been received by UZ/KULeuven. Ann Mertens is an advisor for Amarin, Novo Nordisk, Sanofi, Novartis and Boehringer Ingelheim. She has served on the speakers bureau for Novo Nordisk, Sanofi, Eli Lilly, Amgen, AstraZeneca, Novartis, Boehringer Ingelheim, Daiichi-Sankyo, Servier and Merck Sharp and Dohme Ltd. The rest of the authors report no conflicts of interest.