Performance of various diagnostic criteria of familial
dysbetalipoproteinemia in ApoE2/E2 homozygotes with mixed
dyslipidaemia

a 2021

Performance of various diagnostic criteria of familial dysbetalipoproteinemia in ApoE2/E2 homozygotes with mixed dyslipidaemia

SATNY, M., M. VRABLIK, T. ALTSCHMIEDOVA, V. TODOROVOVA, Vladimír SOŠKA et. al.

Základní údaje

Originální název

Performance of various diagnostic criteria of familial dysbetalipoproteinemia in ApoE2/E2 homozygotes with mixed dyslipidaemia

Autoři

SATNY, M., M. VRABLIK, T. ALTSCHMIEDOVA, V. TODOROVOVA, Vladimír SOŠKA a Ondřej KYSELÁK

Vydání

EAS 2021, 2021

Další údaje

Jazyk

angličtina

Typ výsledku

Konferenční abstrakt

Stát vydavatele

Irsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 6.847

Organizační jednotka

Lékařská fakulta

ISSN

DOI

http://dx.doi.org/10.1016/j.atherosclerosis.2021.06.503

UT WoS

000693712700504

Změněno: 18. 1. 2022 07:36, Mgr. Tereza Miškechová

Anotace

V originále

Background and Aims: Familial dysbetalipoproteinemia (FD) is an AR disease and is associated with polymorphisms of apoE. The typical genotype is apoE2/E2 and phenotype a mixed dyslipidaemia in context of another metabolic or genetic trigger factors. The gold standard for diagnosing FD is the ultracentrifugation of lipoproteins, which is often not available in clinical practice. However, there are also several diagnostic criteria that can define patients with a probable FD diagnosis suitable for further testing. The aim of this work was to compare different algorithms used in practice. Methods: A total of 75 patients aged 62.3±16.5 years with genotype apoE2/E2 and mixed DLP were identified in the MEDPED database in the Czech Republic. The study used diagnostic criteria were - (i) TC/TG ratio (TC > 5mmol/l, TG > 3mmol/l), (ii) nonHDL-c/apoB ratio > 2,6, (iii) apoB/TC ratio < 0,15 and (iv) apoB algorithm (apoB < 1,2g/l, TG > 2,3mmol/l, TG/apoB < 10, TC/apoB > 6,2), which has been described as highly sensitive and specific for the selection of suspected FD patients. Results: Median of maximal TC was 8.8±3.0mmol/l, TG 3.9±6.2mmol/l, HDL-C 1.4±0.5mmol/l, apoB 0.9±0.8 mmol/l and glycaemia 5.0±2.5mmol/l. Criteria (i) and (ii) were met in 84%, resp. 96% of patients, whereas criteria (iii) and (iv) in 85.3%, resp. in 42.7% of patients. Conclusions: There are differences in specificity and sensitivity of diagnostic criteria. The use of the apoB algorithm can define a population with a probable FD diagnosis suitable for further testing.

Citovat

SATNY, M., M. VRABLIK, T. ALTSCHMIEDOVA, V. TODOROVOVA, Vladimír SOŠKA a Ondřej KYSELÁK. Performance of various diagnostic criteria of familial dysbetalipoproteinemia in ApoE2/E2 homozygotes with mixed dyslipidaemia. In EAS 2021. 2021. ISSN 0021-9150. Dostupné z: https://dx.doi.org/10.1016/j.atherosclerosis.2021.06.503.

@proceedings{1823098,
   author = {Satny, M. and Vrablik, M. and Altschmiedova, T. and Todorovova, V. and Soška, Vladimír and Kyselák, Ondřej},
   booktitle = {EAS 2021},
   doi = {http://dx.doi.org/10.1016/j.atherosclerosis.2021.06.503},
   language = {eng},
   title = {Performance of various diagnostic criteria of familial dysbetalipoproteinemia in ApoE2/E2 homozygotes with mixed dyslipidaemia},
   url = {https://www.atherosclerosis-journal.com/article/S0021-9150(21)00775-9/fulltext#relatedArticles},
   year = {2021}
}

TY  - CONF
ID  - 1823098
AU  - Satny, M. - Vrablik, M. - Altschmiedova, T. - Todorovova, V. - Soška, Vladimír - Kyselák, Ondřej
PY  - 2021
TI  - Performance of various diagnostic criteria of familial dysbetalipoproteinemia in ApoE2/E2 homozygotes with mixed dyslipidaemia
UR  - https://www.atherosclerosis-journal.com/article/S0021-9150(21)00775-9/fulltext#relatedArticles
N2  - Background and Aims: Familial dysbetalipoproteinemia (FD) is an AR disease and is associated with polymorphisms of apoE. The typical genotype is apoE2/E2 and phenotype a mixed dyslipidaemia in context of another metabolic or genetic trigger factors. The gold standard for diagnosing FD is the ultracentrifugation of lipoproteins, which is often not available in clinical practice. However, there are also several diagnostic criteria that can define patients with a probable FD diagnosis suitable for further testing. The aim of this work was to compare different algorithms used in practice. Methods: A total of 75 patients aged 62.3±16.5 years with genotype apoE2/E2 and mixed DLP were identified in the MEDPED database in the Czech Republic. The study used diagnostic criteria were - (i) TC/TG ratio (TC > 5mmol/l, TG > 3mmol/l), (ii) nonHDL-c/apoB ratio > 2,6, (iii) apoB/TC ratio < 0,15 and (iv) apoB algorithm (apoB < 1,2g/l, TG > 2,3mmol/l, TG/apoB < 10, TC/apoB > 6,2), which has been described as highly sensitive and specific for the selection of suspected FD patients. Results: Median of maximal TC was 8.8±3.0mmol/l, TG 3.9±6.2mmol/l, HDL-C 1.4±0.5mmol/l, apoB 0.9±0.8 mmol/l and glycaemia 5.0±2.5mmol/l. Criteria (i) and (ii) were met in 84%, resp. 96% of patients, whereas criteria (iii) and (iv) in 85.3%, resp. in 42.7% of patients. Conclusions: There are differences in specificity and sensitivity of diagnostic criteria. The use of the apoB algorithm can define a population with a probable FD diagnosis suitable for further testing.
ER  -

SATNY, M., M. VRABLIK, T. ALTSCHMIEDOVA, V. TODOROVOVA, Vladimír SOŠKA a Ondřej KYSELÁK. Performance of various diagnostic criteria of familial dysbetalipoproteinemia in ApoE2/E2 homozygotes with mixed dyslipidaemia. In \textit{EAS 2021}. 2021. ISSN~0021-9150. Dostupné z: https://dx.doi.org/10.1016/j.atherosclerosis.2021.06.503.

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