Authors: O. Kyselák 1; V. Soška 1,2,3; T. Freiberger 4; M. Vráblík 5 Authors‘ workplace: Oddělení klinické biochemie, FN u sv. Anny v Brně 1; Mezinárodní centrum klinického výzkumu, FN u sv. Anny v Brně 2; II. interní klinika, Katedra laboratorních metod, Lékařská fakulta MU, Brno 3; Genetická laboratoř, Centrum kardiovaskulární a transplantační chirurgie Brno 4; 3. interní klinika, 1. LF Univerzity Karlovy a Všeobecné fakultní nemocnice v Praze 5 Published in: Klin. Biochem. Metab., 25, 2017, No. 2, p. 52-55
Familial hypercholesterolemia (FH) is the most serious type of hereditary dyslipidemia. Patients with FH may develop cardiovascular event (primarily heart attack) in young age. Recent studies showed that FH prevalence is higher than previously estimated and FH in general population is still underdiagnosed and undertreated. The MedPed project (Make early diagnosis to Prevent early deaths in Medical Pedigrees) in Czech Republic started in 1998. Its aim is to search actively for both FH patients and their relatives, so that their aggressive hypolipidemic treatment can be initiated as soon as possible.
Keywords: familial hypercholesterolemia, cardiovascular diseases, MedPed project, cascade screening.
1. Nordestgaard, B. G., Chapman, M. J., Humphries, S. E. et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. Consensus Statement of the European Atherosclerosis Society. Eur Heart. J 2013, 34(45), p. 3478-3490
2. Catapano, A. L., Graham, I., Backer, G. D. et al. 2016 ESC/EAS Guidelines for the Management of Dyslipidaemias. The Task Force for the Management of Dyslipidaemias of the European Society of Cardiology (ESC) and European Atherosclerosis Society (EAS). Atherosclerosis, 2016, 253, p. 281–344.
3. Cuchel, M., Bruckert, E., Ginsberg, H. N. et al. 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, 35, p. 2146–2157.
4. Kolovou, G. D., Kostakou, P. M., Anagnostopoulou, K. K. Familial hypercholesterolemia and triglyceride metabolism. Int. J Cardiol., 2011, 147, p. 349–358.
5. Freiberger, T., Vrablík, M. Včasná diagnostika familiární hypercholesterolemie v České republice v rámci projektu MedPed. Vnitř. Lék., 2015, 61(11), p. 942-945
6. Zdroj: databáze projektu MedPed
7. Oficiální stránky České společnosti pro aterosklerózu: www.athero.cz
Don‘t have an account? Create new account
Enter the email address that you registered with. We will send you instructions on how to set a new password.
