Familial Hypercholesterolemia in the Czech Republic: More Than 17 Years of Systematic Screening Within the MedPed Project

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F17%3A10361238" target="_blank" >RIV/00216208:11110/17:10361238 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14110/17:00098481 RIV/00216208:11150/17:10361238 RIV/00209775:_____/17:N0000029 RIV/65269705:_____/17:00067355 and 3 more
Result on the web
<a href="http://www.biomed.cas.cz/physiolres/pdf/66/66_S1.pdf" target="_blank" >http://www.biomed.cas.cz/physiolres/pdf/66/66_S1.pdf</a>
DOI - Digital Object Identifier
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Result language
angličtina
Original language name
Familial Hypercholesterolemia in the Czech Republic: More Than 17 Years of Systematic Screening Within the MedPed Project
Original language description
Familial hypercholesterolemia (FH) is the most common autosomal dominant disorder.It is characterized by a decrease in LDL cholesterol catabolism and an early clinical manifestation of atherosclerotic vessel damage.The aim of the MedPed (Make early diagnosis to Prevent early deaths) project is an early diagnosis of FH patients in order to profit from early treatment and prevent cardiovascular events.Till November 30, 2016 The Czech National MedPed Database has registered 7,001 FH patients from 5,223 different families that is 17.4 % of expected patients in the Czech Republic considering 1: 250 FH prevalence. The improvement in diagnostic accuracy, patient cooperation and above all familial cascade screening is enabled by FH mutation detection using the modern technology of next- generation sequencing.FH still remain undiagnosed even though the Czech Republic is one of the most successful countries with respect to FH detection.The opportunities of international collaboration and experience sharing within international programs (e.g.EAS FHSC, ScreenPro FH etc.) will improve the detection of FH patients in the future and enable even more accessible and accurate genetic diagnostics.
Czech name
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Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30201 - Cardiac and Cardiovascular systems

Project
<a href="/en/project/NV15-28277A" target="_blank" >NV15-28277A: LDL gene score in the diagnosis of primary hypercholesterolemias and cardiovascular risk assessment</a><br>
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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