News about familial hypercholesterolaemia for cardiologists

Česká verzia

Authors: Vaclová M.; Vrablík M.
Authors place of work: Centrum preventivní kardiologie, III. interní klinika 1. LF UK a VFN v Praze
Published in the journal: Kardiol Rev Int Med 2019, 21(2): 60-64

Summary

Familial hypercholesterolaemia (FH) is an hereditary disease that has been shown to increase the risk of atherosclerotic complications. The prevalence of FH among cardiac patients is higher than in the general population. Due to achievable and very effective treatment, it is advisable that patients be diagnosed and adequately treated according to the level of cardiovascular risk. This can prevent cardiovascular complications due to progressing atherosclerosis. The basis of the treatment is a highly dosed high-potency statin in combination with ezetimibe, and with PCSK-9 inhibitors if the payment criteria are met. Project MedPed (Make early diagnoses to Prevent early deaths in Medical Pedigrees) provides a care network for patients with FH.

Keywords:

cardiovascular risk – PCSK9 inhibitor – secondary prevention – statin – MedPed project

Zdroje

1. Freiberger T, Vaclová M, Tichý L et al. Familiární hypercholesterolemie v České Republice v roce 2016. Vnitr Lek 2016; 62(11): 924–928.

2. Khera AV, Won HH, Peloso GM et al. Diagnostic yield and clinical utility of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia. J Am Coll Cardiol 2016; 67(22): 2578–2589. doi: 10.1016/ j.jacc.2016.03.520.

3. Vrablík M, Češka R, Freiberger T et al. Souhrn konsenzu panelu expertů European Atherosclerosis Society k otázce diagnostiky a klinickému vedení nemocných s homozygotní formou familiární hypercholesterolemie. Hypertenze a KV prevence 2015; 4(1): 54–56.

4. Freiberger T, Bláha V, Soška V et al. Souhrn konsenzu panelu expertů International Atherosclerosis Society k problematice definice, diagnostiky a léčby těžké formy familiární hypercholesterolemie. Hypertenze a KV prevence 2016; 5(2): 47–52.

5. Vrablík M, Freiberger T, Bláha V et al. Souhrn konsenzu panelu expertů European Atherosclerosis Society k otázce diagnostiky a klinickému vedení nemocných s familiární hypercholesterolemií. Hypertenze a KV prevence 2015; 4(2): 44–48.

6. Sha L, Hui-Wen Z, Yuan-Lin G et al. Familial hypercholesterolemia in very young myocardial infarction. Sci Rep 2018; 8: 8861. doi: 10.1038/ s41598-018-27248-w. Available at: https:/ / www.nature.com/ articles/ s41598-018-27248-w.

7. 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. doi: 10.1093/ eurheartj/ ehl113.

8. Projekt MedPed. Česká společnost pro aterosklerózu. Dostupné na: http:/ / www.athero.cz/ projekt-medped/ pro-odborníky.

9. Nordestgaard BG, Chapman MJ, Humphries SE et al. Consensus statement of the European Atherosclerosis Society: Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. Eur Heart J 2013; 34(45): 3478–3790. doi: 10.1093/ euroheart/ eht273.