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

J 2017

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

VRABLIK, M., M. VACLOVA, Lukáš TICHÝ, Vladimír SOŠKA, V. BLAHA et. al.

Basic information

Original name

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

Authors

VRABLIK, M. (203 Czech Republic), M. VACLOVA (203 Czech Republic), Lukáš TICHÝ (203 Czech Republic, guarantor), Vladimír SOŠKA (203 Czech Republic, belonging to the institution), V. BLAHA (203 Czech Republic), Lenka FAJKUSOVÁ (203 Czech Republic), R. CESKA (203 Czech Republic), M. SATNY (203 Czech Republic) and Tomáš FREIBERGER (203 Czech Republic)

Edition

Physiological research, Praha, Fyziologický ústav AV ČR, 2017, 0862-8408

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30105 Physiology

Country of publisher

Czech Republic

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 1.324

RIV identification code

RIV/00216224:14110/17:00098481

Organization unit

Faculty of Medicine

UT WoS

000398620900002

Keywords in English

Familial hypercholesterolemia; LDL; cholesterol; Cascade; screening; MedPed

Abstract

V originále

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.

Citovat

VRABLIK, M., M. VACLOVA, Lukáš TICHÝ, Vladimír SOŠKA, V. BLAHA, Lenka FAJKUSOVÁ, R. CESKA, M. SATNY and Tomáš FREIBERGER. Familial Hypercholesterolemia in the Czech Republic: More Than 17 Years of Systematic Screening Within the MedPed Project. Physiological research. Praha: Fyziologický ústav AV ČR, 2017, vol. 66, Suppl. 1, p. "S1"-"S9", 9 pp. ISSN 0862-8408.

@article{1396935,
   author = {Vrablik, M. and Vaclova, M. and Tichý, Lukáš and Soška, Vladimír and Blaha, V. and Fajkusová, Lenka and Ceska, R. and Satny, M. and Freiberger, Tomáš},
   article_location = {Praha},
   article_number = {Suppl. 1},
   keywords = {Familial hypercholesterolemia; LDL; cholesterol; Cascade; screening; MedPed},
   language = {eng},
   issn = {0862-8408},
   journal = {Physiological research},
   title = {Familial Hypercholesterolemia in the Czech Republic: More Than 17 Years of Systematic Screening Within the MedPed Project},
   volume = {66},
   year = {2017}
}

TY  - JOUR
ID  - 1396935
AU  - Vrablik, M. - Vaclova, M. - Tichý, Lukáš - Soška, Vladimír - Blaha, V. - Fajkusová, Lenka - Ceska, R. - Satny, M. - Freiberger, Tomáš
PY  - 2017
TI  - Familial Hypercholesterolemia in the Czech Republic: More Than 17 Years of Systematic Screening Within the MedPed Project
JF  - Physiological research
VL  - 66
IS  - Suppl. 1
SP  - "S1"-"S9"
EP  - "S1"-"S9"
PB  - Fyziologický ústav AV ČR
SN  - 08628408
KW  - Familial hypercholesterolemia
KW  - LDL
KW  - cholesterol
KW  - Cascade
KW  - screening
KW  - MedPed
N2  - 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.
ER  -

VRABLIK, M., M. VACLOVA, Lukáš TICHÝ, Vladimír SOŠKA, V. BLAHA, Lenka FAJKUSOVÁ, R. CESKA, M. SATNY and Tomáš FREIBERGER. Familial Hypercholesterolemia in the Czech Republic: More Than 17 Years of Systematic Screening Within the MedPed Project. \textit{Physiological research}. Praha: Fyziologický ústav AV ČR, 2017, vol.~66, Suppl. 1, p.~''S1''-''S9'', 9 pp. ISSN~0862-8408.

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