GENERAL CHARACTERISTICS OF PACIENTS WITH HOMOZYGOUS FORM OF
FAMILIAL HYPERCHOLESTEROLAEMIA IN THE CZECH REPUBLIC

a 2018

GENERAL CHARACTERISTICS OF PACIENTS WITH HOMOZYGOUS FORM OF FAMILIAL HYPERCHOLESTEROLAEMIA IN THE CZECH REPUBLIC

TESAROVA, S, V BLAHA, R CESKA, J DVORAKOVA, Tomáš FREIBERGER et. al.

Základní údaje

Originální název

GENERAL CHARACTERISTICS OF PACIENTS WITH HOMOZYGOUS FORM OF FAMILIAL HYPERCHOLESTEROLAEMIA IN THE CZECH REPUBLIC

Autoři

Vydání

2018

Další údaje

Jazyk

angličtina

Typ výsledku

Konferenční abstrakt

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.1016/j.atherosclerosis.2018.06.541

UT WoS

000442512600553

Změněno: 11. 2. 2021 11:22, Mgr. Tereza Miškechová

Anotace

V originále

Aim: Aim of project was to define general characteristics of patients with homozygous form of familial hypercholesterolaemia in the Czech Republic. Methods: Set of hoFH patients has 19 patients, including 5 ceased. Patients were selected by the genetic testing or phenotypic criteria for hoFH. Data were extracted from the Czech national FH registry (MedPed). Results: Median of age at diagnosis was 30,0; R(7-63) years. Baseline total cholesterol (T-C) level had median 12.85; R(6.4-22.8)mmol/l and LDL-cholesterol (LDL-C) 10.27; R(4.29-21.26)mmol/l. 18 homozygotes were confirmed by genotyping – 77.8% of patients had LDLR/LDLR mutation and 22.2% had apoB/apoB mutation. All of the patients with apoB mutation are true homozygotes, while only 4 patients with LDLR mutation were true homozygotes and 10 patients were compound heterozygotes. There were no double heterozygotes. Premature atherosclerotic vascular disease was diagnosed in 74%, xanthomas in 37%, arcus lipoides corneae in 11% and xanthelasma in 16% cases. 5 patients died, median age of death was 45; R(32-68) years. All patients were treated with statins, 93% had a statin-ezetimibe combination, 50% were on triple therapy with PCSK9-i, 5 patients had regular LDL-apheresis. Median of on-treatment LDL-C was 3.64; R(1.04-6.03)mmol/l. Patients with LDLR/LDLR mutation compared to apoB/apoB homozygotes have better on-treatment levels of LDL-C and T-C, even though the baseline LDL-C and T-C levels were higher. 33% patients reached LDL-C targets. Conclusions: Our study demonstrated important clinical and laboratory differences between LDLR and apoB FH homozygous individuals including target values attainment variability.

Citovat

TESAROVA, S, V BLAHA, R CESKA, J DVORAKOVA, Tomáš FREIBERGER, P HORAK, J HYANEK, Ondřej KYSELÁK, B NUSSBAUMEROVA, V SOSKA, R URBANEK, M VACLOVA, H VAVERKOVA, M VRABLIK, P VYROUBAL, S ZEMEK a L ZLATOHLAVEK. GENERAL CHARACTERISTICS OF PACIENTS WITH HOMOZYGOUS FORM OF FAMILIAL HYPERCHOLESTEROLAEMIA IN THE CZECH REPUBLIC. 2018. Dostupné z: https://dx.doi.org/10.1016/j.atherosclerosis.2018.06.541.

@proceedings{1740586,
   author = {Tesarova, S and Blaha, V and Ceska, R and Dvorakova, J and Freiberger, Tomáš and Horak, P and Hyanek, J and Kyselák, Ondřej and Nussbaumerova, B and Soska, V and Urbanek, R and Vaclova, M and Vaverkova, H and Vrablik, M and Vyroubal, P and Zemek, S and Zlatohlavek, L},
   doi = {http://dx.doi.org/10.1016/j.atherosclerosis.2018.06.541},
   language = {eng},
   title = {GENERAL CHARACTERISTICS OF PACIENTS WITH HOMOZYGOUS FORM OF FAMILIAL HYPERCHOLESTEROLAEMIA IN THE CZECH REPUBLIC},
   url = {https://www.sciencedirect.com/science/article/pii/S0021915018308530?via%3Dihub},
   year = {2018}
}

TY  - CONF
ID  - 1740586
AU  - Tesarova, S - Blaha, V - Ceska, R - Dvorakova, J - Freiberger, Tomáš - Horak, P - Hyanek, J - Kyselák, Ondřej - Nussbaumerova, B - Soska, V - Urbanek, R - Vaclova, M - Vaverkova, H - Vrablik, M - Vyroubal, P - Zemek, S - Zlatohlavek, L
PY  - 2018
TI  - GENERAL CHARACTERISTICS OF PACIENTS WITH HOMOZYGOUS FORM OF FAMILIAL HYPERCHOLESTEROLAEMIA IN THE CZECH REPUBLIC
UR  - https://www.sciencedirect.com/science/article/pii/S0021915018308530?via%3Dihub
N2  - Aim: Aim of project was to define general characteristics of patients with homozygous form of familial hypercholesterolaemia in the Czech Republic. Methods: Set of hoFH patients has 19 patients, including 5 ceased. Patients were selected by the genetic testing or phenotypic criteria for hoFH. Data were extracted from the Czech national FH registry (MedPed). Results: Median of age at diagnosis was 30,0; R(7-63) years. Baseline total cholesterol (T-C) level had median 12.85; R(6.4-22.8)mmol/l and LDL-cholesterol (LDL-C) 10.27; R(4.29-21.26)mmol/l. 18 homozygotes were confirmed by genotyping – 77.8% of patients had LDLR/LDLR mutation and 22.2% had apoB/apoB mutation. All of the patients with apoB mutation are true homozygotes, while only 4 patients with LDLR mutation were true homozygotes and 10 patients were compound heterozygotes. There were no double heterozygotes. Premature atherosclerotic vascular disease was diagnosed in 74%, xanthomas in 37%, arcus lipoides corneae in 11% and xanthelasma in 16% cases. 5 patients died, median age of death was 45; R(32-68) years. All patients were treated with statins, 93% had a statin-ezetimibe combination, 50% were on triple therapy with PCSK9-i, 5 patients had regular LDL-apheresis. Median of on-treatment LDL-C was 3.64; R(1.04-6.03)mmol/l. Patients with LDLR/LDLR mutation compared to apoB/apoB homozygotes have better on-treatment levels of LDL-C and T-C, even though the baseline LDL-C and T-C levels were higher. 33% patients reached LDL-C targets. Conclusions: Our study demonstrated important clinical and laboratory differences between LDLR and apoB FH homozygous individuals including target values attainment variability.
ER  -

TESAROVA, S, V BLAHA, R CESKA, J DVORAKOVA, Tomáš FREIBERGER, P HORAK, J HYANEK, Ondřej KYSELÁK, B NUSSBAUMEROVA, V SOSKA, R URBANEK, M VACLOVA, H VAVERKOVA, M VRABLIK, P VYROUBAL, S ZEMEK a L ZLATOHLAVEK. \textit{GENERAL CHARACTERISTICS OF PACIENTS WITH HOMOZYGOUS FORM OF FAMILIAL HYPERCHOLESTEROLAEMIA IN THE CZECH REPUBLIC}. 2018. Dostupné z: https://dx.doi.org/10.1016/j.atherosclerosis.2018.06.541.

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