Endocrine Abstracts

Background: Familial hypercholesterolemia (FH) is a genetic disease characterized by hypercholesterolemia and premature cardiovascular events. Early diagnosis and treatment can strongly reduce the cardiovascular burden.

Objective: We aim to describe the characteristics of patients with heterozygous FH followed in a tertiary hospital in Belgium.

Methods: We retrospectively studied a cohort of 321 patients with definite heterozygous FH who visited the UZ Leuven lipid clinic at least once between 1/1/2016 and 31/12/2020. Sociodemographic, clinical, and biochemical data were collected and analyzed. 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, 88/321) were older (P<0.001) and more often male (P<0.001). They had a higher body mass index (P<0.001), prevalence of (pre)diabetes (P<0.001) and hypertension (P<0.001) and had lower serum levels of low-density lipoprotein-cholesterol (LDL-C) (P<0.001) than individuals without atherosclerotic disease (primary prevention). A BMI >25 kg/m²was associated with male gender (P=0.007), higher age (P<0.001) and a higher prevalence of (pre)diabetes (P<0.001), hypertension (P<0.001), liver steatosis (P=0.001), sleep apnea (P=0.003) and cardiovascular events (P=0.002). Moreover, significantly higher triglycerides (P=0.002) and lower HDL cholesterol levels (P<0.001) were seen in individuals with BMI >25kg/m² whereas the percentage of smokers (P=0.107), and LDL (P=0.693) and total cholesterol (P=0.675) were similar between the BMI categories. The average LDL-C in both primary (109 ±53 mg/dl) and secondary (81 ±63 mg/dl) meet the targets of LDL-C as proposed by the 2019 ESC/EAS guidelines for the management of dyslipidemias. 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<0.001).

Conclusions: In this Belgian cohort, people with heterozygous FH remain undertreated and don’t reach LDL-C targets as proposed by ESC. 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.