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Original article

Vol. 155 No. 2 (2025)

Evinacumab for the treatment of homozygous familial hypercholesterolaemia: first patient case report in Switzerland

Cite this as:
Swiss Med Wkly. 2025;155:4024
Published
28.02.2025

Summary

We present the first case in Switzerland of a patient with homozygous familial hypercholesterolaemia treated with evinacumab, a new recombinant human monoclonal antibody currently approved in Europe and in the USA but not yet in Switzerland. Homozygous familial hypercholesterolaemia is a rare genetic disorder that causes severely elevated levels of low-density lipoprotein (LDL) cholesterol and early atherosclerotic cardiovascular disease, which, if left untreated, can lead to premature death. As a result of this newly introduced treatment, the patient’s LDL cholesterol levels were reduced by more than half, achieving recommended target values of secondary prevention for the first time. This case underscores the efficacy of evinacumab in achieving LDL cholesterol targets in homozygous familial hypercholesterolaemia patients and highlights the importance of early identification and treatment initiation.

References

  1. Cuchel M, Bruckert E, Ginsberg HN, Raal FJ, Santos RD, Hegele RA, et al.; European Atherosclerosis Society Consensus Panel on Familial Hypercholesterolaemia. Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. Eur Heart J. 2014 Aug;35(32):2146–57. doi: https://doi.org/10.1093/eurheartj/ehu274
  2. Stock J. EAS Consensus Panel statement on homozygous FH. Atherosclerosis. 2015 Sep;242(1):323–6. doi: https://doi.org/10.1016/j.atherosclerosis.2015.06.050
  3. Akioyamen LE, Genest J, Shan SD, Reel RL, Albaum JM, Chu A, et al. Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis. BMJ Open. 2017 Sep;7(9):e016461. doi: https://doi.org/10.1136/bmjopen-2017-016461
  4. France M, Rees A, Datta D, Thompson G, Capps N, Ferns G, et al.; for HEART UK Medical Scientific and Research Committee. HEART UK statement on the management of homozygous familial hypercholesterolaemia in the United Kingdom. Atherosclerosis. 2016 Dec;255:128–39. doi: https://doi.org/10.1016/j.atherosclerosis.2016.10.017
  5. Mach F, Baigent C, Catapano AL, Koskinas KC, Casula M, Badimon L, et al.; ESC Scientific Document Group. 2019 ESC/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk. Eur Heart J. 2020 Jan;41(1):111–88. doi: https://doi.org/10.1093/eurheartj/ehz455
  6. Raal FJ, Honarpour N, Blom DJ, Hovingh GK, Xu F, Scott R, et al.; TESLA Investigators. Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial. Lancet. 2015 Jan;385(9965):341–50. doi: https://doi.org/10.1016/S0140-6736(14)61374-X
  7. Santos RD, Stein EA, Hovingh GK, Blom DJ, Soran H, Watts GF, et al. Long-Term Evolocumab in Patients With Familial Hypercholesterolemia. J Am Coll Cardiol. 2020 Feb;75(6):565–74. doi: https://doi.org/10.1016/j.jacc.2019.12.020
  8. Gaudet D, Gipe DA, Pordy R, Ahmad Z, Cuchel M, Shah PK, et al. ANGPTL3 Inhibition in Homozygous Familial Hypercholesterolemia. N Engl J Med. 2017 Jul;377(3):296–7. doi: https://doi.org/10.1056/NEJMc1705994
  9. Raal FJ, Rosenson RS, Reeskamp LF, Hovingh GK, Kastelein JJ, Rubba P, et al.; ELIPSE HoFH Investigators. Evinacumab for Homozygous Familial Hypercholesterolemia. N Engl J Med. 2020 Aug;383(8):711–20. doi: https://doi.org/10.1056/NEJMoa2004215
  10. Rosenson RS, Burgess LJ, Ebenbichler CF, Baum SJ, Stroes ES, Ali S, et al. Longer-Term Efficacy and Safety of Evinacumab in Patients With Refractory Hypercholesterolemia. JAMA Cardiol. 2023 Nov;8(11):1070–6. doi: https://doi.org/10.1001/jamacardio.2023.2921
  11. Reimbursement for the cost of medical products in individual cases. Federal Office of Public Health (BAG). 12.6.2024. Available from: https://www.bag.admin.ch/bag/en/home/versicherungen/krankenversicherung/krankenversicherung-leistungen-tarife/Arzneimittel/verguetung-arzneimittel-im-einzelfall.html
  12. Kroon AA, van’t Hof MA, Demacker PN, Stalenhoef AF. The rebound of lipoproteins after LDL-apheresis. Kinetics and estimation of mean lipoprotein levels. Atherosclerosis. 2000 Oct;152(2):519–26. doi: https://doi.org/10.1016/S0021-9150(00)00371-3
  13. Cuchel M, Raal FJ, Hegele RA, Al-Rasadi K, Arca M, Averna M, et al. 2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance. Eur Heart J. 2023 Jul;44(25):2277–91. doi: https://doi.org/10.1093/eurheartj/ehad197