Background: Despite optimal lipid-lowering therapy, a minority of patients with familial hypercholesterolemia (FH) reach low-density lipoprotein cholesterol (LDL-c) target goals. In randomized trials, proprotein convertase subtilisin/kexin 9 (PCSK9) inhibitors led to impressive LDL-c reductions and a favorable safety profile. However, data about the efficacy and safety outside clinical trials are not available yet. Objective: The purpose of the study is to describe efficacy and side effects of PCSK9 inhibitors in FH patients in clinical practice. Methods: Registry of all consecutive FH patients who started with a PCSK9 inhibitor at a lipid clinic of a university hospital. Results: We analyzed 83 FH patients (79 heterozygous FH [heFH]-65 with a genetically confirmed heFH and 14 with clinical heFH-and 4 homozygous FH [hoFH]), with a mean age of 55.1 ± 11.6 years. Treatment with a PCSK9 inhibitor resulted in an additional reduction of 55% ± 21% in mean LDL-c levels. Patients with heFH had more LDL-c decrease than those with hoFH (56% vs 38%). Patients using ezetimibe monotherapy because of statin intolerance (n = 24, 29%) had less LDL-c decrease compared with patients who concurrently used statin therapy (47% and 58%, P = .03). Side effects of PCSK9 inhibitors were reported by 32 patients (39%). Flu-like symptoms (n = 12) and injection site reactions (n = 11) were most frequent. Seven patients (8%) discontinued treatment, 5 because of side effects and 2 because of nonresponse. Conclusion: Our initial experience of PCSK9 inhibition in FH patients in a clinical setting showed comparable reduction in LDL-c levels but more side effects compared with clinical trials.

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Keywords Cardiovascular disease, Familial hypercholesterolemia, Injection site reaction, Lipid-lowering therapy, PCSK9 inhibitors, Side effects
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Journal Journal of Clinical Lipidology
Galema-Boers, J.M.H, Lenzen, M.J, Sijbrands, E.J.G, & Roeters van Lennep, J.E. (2017). Proprotein convertase subtilisin/kexin 9 inhibition in patients with familial hypercholesterolemia: Initial clinical experience. Journal of Clinical Lipidology, 11(3), 674–681. doi:10.1016/j.jacl.2017.02.014