Low-density Lipoprotein Lowering in Patients with Familial Hypercholesterolemia – A Retrospective Study from the Dyslipidemia Unit at Karlstad Central Hospital

Abstract: Introduction  Familial hypercholesterolemia (FH) is a genetic disease affecting 1 in 300 individuals, leading to elevated low-density lipoprotein cholesterol (LDL-C). Early diagnosis and initiation of lipid lowering treatment (LLT) – mainly statins and a new type of LLT; PCSK9-inhibitors – are essential to prevent atherosclerotic cardiovascular disease (ASCVD). The Dyslipidemia Unit at Karlstad Central Hospital (DCSK) was started in October 2018 to optimize identification and treatment of FH-patients.  Aim The main aim of this study was to investigate whether a specialized outpatient unit for FH could significantly lower patients’ LDL-C by changing the treatment strategy. The secondary aim was to study whether smoking, genetically verified FH, and treatment with PCSK9inhibitors affected the treatment efficacy in terms of lowering LDL-C. Methods  A retrospective review of medical records from 24 patients treated for FH at DCSK between October 2018 and November 2019 was performed. Wilcoxon signed rank-test was used to compare LDL-C at admission to LDL-C at follow-up visit (median time until follow-up: 7 months). Mann-Whitney U-tests were used to determine whether smoking, genetically verified FH, and treatment with PCSK9-inhibitors affected LDL-C. Results  LDL-C was significantly reduced when comparing levels at admission to levels after changing treatment strategies at DCSK; mean reduction was 1.2 mmol/L. The level of LDL-C reduction was not affected by smoking, treatment with PCSK9-inhibitors, or genetically verified FH. Conclusion The present study shows that patients’ LDL-C was effectively lowered after treatment modifications at DCSK. However, more aggressive LLT is needed since none of the patients were able to meet European treatment guidelines for FH.