Familial hypercholesterolemia in the Czech Republic: more than 17 years of systematic screening within the MedPed project

Title:

Familial hypercholesterolemia in the Czech Republic: more than 17 years of systematic screening within the MedPed project

Creator:

Michal Vrablík, Martina Vaclová, Tichý, L., Vladimír Soška, Vladimír Bláha, Lenka Fajkusová, Richard Češka, Šatný, M., and Tomáš Freiberger

Identifier:

https://cdk.lib.cas.cz/client/handle/uuid:2afe9f23-ad82-4203-a827-4c753f877e0e
uuid:2afe9f23-ad82-4203-a827-4c753f877e0e
issn:0862-8408

Subject:

Fyziologie člověka a srovnávací fyziologie, familiární hypercholesterolémie, familial hypercholesterolemia, LDL-cholesterol, cascade screening, MedPed, 14, and 612

Type:

article, články, journal articles, model:article, and TEXT

Format:

print, bez média, and svazek

Description:

Familial hypercholesterolemia (FH) is the most common autosomal dominant disorder. It is characterized by a de crease 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 treat ment and prevent cardiov ascular 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 on e 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 futur e and enable even more accessible and accurate genetic diagnostics., M. Vrablík, M. Vaclová, L. Tichý, V. Soška, V. Bláha, L. Fajkusová, R. Češka, M. Šatný, T. Freiberger., and Obsahuje bibliografii

Language:

English

Rights:

http://creativecommons.org/licenses/by-nc-sa/4.0/
policy:public

Source:

Physiological research | 2017 Volume:66 | Number:Suppl 1

Harvested from:

CDK

Metadata only:

false