Familial hypercholesterolemia: news

Czech version

Authors: Martina Vaclová; Michal Vrablík
Authors‘ workplace: Centrum preventivní kardiologie, III. interní klinika – endokrinologie a metabolismu 1. LF UK a VFN v Praze
Published in: AtheroRev 2021; 6(3): 163-167
Category:

Overview

Familial hypercholesterolemia is a metabolic disease with extensive clinical implications for its carriers. It is caused by a mutation in 1 of the 3 genes necessary for the metabolism of the LDL cholesterol particle. Suspicion of familial hypercholesterolemia should be suspected with levels LDL cholesterol > 5 mmol/L without significant triglyceride elevation. A positive family history contributes significantly to the clinical diagnosis. Clinical signs of familial hypercholesterolemia are becoming less common. In practice, scoring systems have been used successfully to quantify clinical suspicion. Molecular genetic testing is not necessary for treatment, yet it can be beneficial for the patient. Treatment begins with diet and lifestyle changes, followed by pharmacological treatment. We have statins, ezetimibe, possibly in combination with other hypolipidemic drugs. Since year 2018, we can indicate treatment with PCSK-9 inhibitors in patients with familial hypercholesterolemia. This treatment is organized in the Czech Republic in the form of center treatment.

Keywords:

statins – ezetimibe – familial hypercholesterolemia – LDL cholesterol – monacolin K – PCSK-9 inhibitors

Sources

Garcia CK, Wilund K, Arca M et al. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science 2001; 292(5520): 1394–1398. Dostupné z DOI: <http://dx.doi.org/10.1126/science.1060458>.
Češka, R. Familiární hypercholesterolemie. Praha: Triton 2015. ISBN 978–80–7387–843–6.
Vrablík M, Piťha J, Blaha V et al. Stanovisko výboru ČSAT k doporučením ESC/EAS pro diagnostiku a léčbu dyslipidemií z roku 2019. AtheroRev 2019; 4(3): 19–30.
van Aalst-Cohen ES, Jansen AC, Tanck MW et al. Diagnosing familial hypercholesterolaemia: the relevance of genetic testing. Eur Heart J 2006; 27(18): 2240 –⁠ 2246. Dostupné z DOI: <http://dx.doi.org/10.1093/eurheartj/ehl113>.
Brandts J, Dharmayat KI, Ray KK et al. Familial hypercholesterolemia: Is it time to separate monogenic from polygenic familial hypercholesterolemia? Curr Opin Lipidol 2020 Jun;31(3):111–118. Dostupné z DOI: <http://dx.doi.org/10.1097/MOL.0000000000000675>.
Hubacek JA, Adamkova V, Lanska V et al. Polygenic hypercholesterolemia: examples of GWAS results and their replication in the Czech-Slavonic population. Physiol Res 2017; 66(Suppl 1): S101–S111. Dostupné z DOI: Dostupné z DOI: <http://dx.doi.org/10.33549/physiolres.933580>.
Tada H, Kawashiri MA, Nomura A et al. Oligogenic familial hypercholesterolemia, LDL cholesterol, and coronary artery disease. J Clin Lipidol 2018; 12(6): 1436–1444. Dostupné z DOI: <http://dx.doi.org/10.1016/j.jacl.2018.08.006>.
Mytilinaiou M, Kyrou I, Khan M et al. Familial hypercholesterolemia: New horizons for diagnosis and effective management. Front Pharmacol 2018 12; 9 : 707. Dostupné z DOI: <http://dx.doi.org/10.3389/fphar.2018.00707>.
Informace dostupné z WWW: <https://www.sukl.cz/sukl/prehledy-cen-a-uhrad-leciv>.