What is the most important for patients with familial hypercholesterol­aemia?
MedPed project in the Czech and Slovak

Authors: Michal Vrablík 1;  Katarína Rašlová 3;  Tomáš Freiberger 2;  Richard Češka Katarína Rašlová 1 3;  Branislav Vohnout 3
Authors‘ workplace: Centrum preventivní kardiologie III. interní kliniky 1. LF UK a Všeobecná fakultní nemocnice, Praha, Česká republika 1;  Genetická laboratoř, Centrum kardiovaskulární a transplantační chirurgie, Brno, Česká republika 2;  Koordinačné centrum pre familiárne hyperlipoproteinémie, Slovenská zdravotnícka univerzita v Bratislave, Slovenská republika 3
Published in: AtheroRev 2016; 1(1): 28-33
Category: Reviews


In the ninetieth of the last century a new initiative aiming at early identification of patients with familial hypercholesterolaemia (FH) endangered by myocardial infarction and premature death emerged in Utah, USA. Its goal comprised diagnosis of the disease in asymptomatic stadium focusing on relatives of patients with a history of an ischaemic event and prevention of premature death and vascular events by early initiation of lipid lowering medications. This project entitled MedPed (Make Early Diagnosis to Prevent Early Deaths) disseminated to more than 30 countries worldwide and gained WHO support. The Czech and Slovak Republic joined the project in 1998. Thanks to the support from the Czech Society for Atherosclerosis and Slovak Association of Atherosclerosis a large network of cooperating centres dealing with the diagnosis and management of FH and other severe dyslipidaemias has been created. Due to efforts of medical teams the number of identified FH probands has been steadily growing and to date there are more than 6 000 and 1 900 FH patients identified in the Czech and Slovak Republic which ranks among the most successful in this respect worldwide. This was enhanced also by the development and accessibility of molecular diagnostics of FH. Thus, the answer to the question raised in the headline of the article seems obvious: the most important is early diagnosis and early management of FH, which is made possible within the MedPed project.

Key words:
cascade screening – familial hypercholesterolaemia – MedPed project – molecular genetics


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