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.

Základní údaje

Originální název

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

Autoři

VRABLIK, M. (203 Česká republika), M. VACLOVA (203 Česká republika), Lukáš TICHÝ (203 Česká republika, garant), Vladimír SOŠKA (203 Česká republika, domácí), V. BLAHA (203 Česká republika), Lenka FAJKUSOVÁ (203 Česká republika), R. CESKA (203 Česká republika), M. SATNY (203 Česká republika) a Tomáš FREIBERGER (203 Česká republika)

Vydání

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

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30105 Physiology

Stát vydavatele

Česká republika

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 1.324

Kód RIV

RIV/00216224:14110/17:00098481

Organizační jednotka

Lékařská fakulta

UT WoS

000398620900002

Klíčová slova anglicky

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

Štítky

EL OK

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 20. 3. 2018 12:54, Soňa Böhmová

Anotace

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 a 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, roč. 66, Suppl. 1, s. "S1"-"S9", 9 s. 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 a 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, roč.~66, Suppl. 1, s.~''S1''-''S9'', 9 s. ISSN~0862-8408.

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