Treatment quality in patients with familial hypercholesterolemia in Denmark

Background Lifestyle counseling and achievement of low-density lipoprotein cholesterol (LDL-C) target goals are crucial to lower the risk of atherosclerotic cardiovascular disease (ASCVD) in patients with familial hypercholesterolemia (FH). However, previous studies have reported that patients with FH remain undertreated in most countries worldwide. Recently, several effective lipid-powering treatments have become available, with the potential to improve treatment quality in patients with FH, but the percentage of patients with FH achieving their LDL-C target goals in Denmark is unknown Purpose To examine the proportion of patients with FH that achieves their LDL-C target goals within 6 months after being diagnosed with FH. Method We retrieved a random sample of 800 individuals registered with a diagnosis of FH in the Danish National Patient Register between January 2020 and June 2023. Subsequently, all cases were validated according to the DLCN criteria based on review of medical records. Individuals with a DLCN-score ≥ 6 and as well as those carrying a pathogen genetic FH variant were considered valid FH cases. For valid FH patients with available LDL-C measurements 6 months (± 2 months) after being diagnosed, we calculated the change in LDL-C since diagnosis date and calculated the proportion of patients achieving their risk specific LDL-C treatment goals. Results We identified a total of 510 patients with a valid diagnosis of FH of whom 486 (95.3%) were genetically tested and 388 (76.1%) had pathogenic FH variant. At time of diagnosis 334 (65.5%) of FH patients received lipid-lowering therapy (LLT), 97 (19.0%) had ASCVD and 154 (30.2%) received dietician counselling within 6 months after being diagnosed. The median highest untreated LDL-C was 6.2 mmol/L (IQR 5.3; 7.2), whereas the median LDL-C at the time of diagnosis date was 3.6 mmol/L (IQR 2.6; 4.9). A total of 414 (81.2%) patients with FH had available follow-up information with 387 (75.9%) receiving LLT. The average LDL-C was 1.02 mmol/L 95%CI: (0.86; 1.17) lower at follow-up compared to time at diagnosis. Of the 414 FH patients with available lipid profiles at follow-up, 66 patients (15.9%) reached their risk specific LDL-C target according to Danish guidelines. Thus, 56 (13.5%) reached a LDL-C below 2.6 mmol/L, 9 (2.2 %) reached a LDL-C goal below 1.8 mmol/L and 1 (0.2) reached a LDL-C below 1.4 mmol/L. Conclusion In this study 65.5% of FH patients received LLT at diagnosis increasing to 75.9% after 6 months and thus a LDL-C reduction of 1.02 mmol/L 95%CI: (0.86; 1.17). However, less than 15.9% of FH patients achieved their risk specific LDL-C target goal and only 30.2% received dietary counseling by a dietician within 6 months after being diagnosed. Patients with FH remain undertreated in Denmark.