Cardiovascular risk in patients with familial hypercholesterolemia. Do we rate it correctly?

Authors: Ubomíra Fábryová
Authors‘ workplace: MetabolKLINIK s. r. o., Ambulancia pre diabetológiu, poruchy látkovej premeny a výživy, MED PED centrum, Bratislava 1;  Biomedicínske centrum Slovenskej Akadémie Vied, Bratislava 2;  Vysoká škola zdravotníctva a sociálnej práce sv. Alžbety, Ústav zdravotníckych disciplín, Bratislava 3
Published in: AtheroRev 2020; 5(2): 99-106


Familial hypercholesterolemia (FH) is the most common autosomal dominant genetic disease defined by exposure to high LDL-cholesterol levels from birth, with an increased lifetime risk of developing atherosclerosis-related cardiovascular disease (AS CVD). Clinical experience shows that the risk of developing AS CVD is highly variable in patients with FH, even in individuals belonging to the same family or sharing the same mutation. Traditional risk factors used in assessing cardiovascular risk in the general population do not take sufficient account of this risk in the FH population. We currently don´t have a clear answer why “the same size doesn´t fit everyone”. Perhaps in the near future, the results of intensive research in the field of various new biomarkers, other risk factors, as well as non-invasive imaging technologies will yield results. The recently published stratification models (SAFEHEART Risk Equation, Montreal-FH-SCORE) could become a risk prediction tool in FH patients. Atherosclerosis-related cardiovascular disease, quality of life, and life expectancy in patients with FH significantly improve early disease diagnosis, early and consistent reduction of LDL-C by combined hypolipidemic treatment, as well as better control of other risk factors. Stratification of cardiovascular risk in the family of patients with FH represents a huge challenge, more accurate risk prediction (including the use of both clinical and genetic variables) will allow physicians to identify a specific population of patients requiring intensive personalized care (tab, fig. 3) [25].


atherosclerosis-related cardiovascular disease – familial hypercholesterolaemia – new biomarkers – risk factors – risk stratification models

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Angiology Diabetology Internal medicine Cardiology General practitioner for adults

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