ATYPICAL PHENOTYPE OF HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

a 2017

ATYPICAL PHENOTYPE OF HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

KYSELÁK, Ondřej, Tomáš FREIBERGER, J KOVAR, L TICHY, Vladimír SOŠKA et. al.

Základní údaje

Originální název

ATYPICAL PHENOTYPE OF HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

Autoři

KYSELÁK, Ondřej, Tomáš FREIBERGER, J KOVAR, L TICHY a Vladimír SOŠKA

Vydání

2017

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.2017.06.732

UT WoS

000407634000695

Příznaky

Mezinárodní význam

Změněno: 11. 2. 2021 11:24, Mgr. Tereza Miškechová

Anotace

V originále

Aim: Homozygous familial hypercholesterolemia (HoFH) is the most serious hereditary dyslipidemia with prevalence about 1/160 000. If untreated, patients may develop coronary heart disease in very young age. Typical phenotype of HoFH is severe hypercholesterolemia with normal or slightly elevated triglycerides. Methods: Case report: 39 years old asymptomatic female treated with fenofibrate 200 mg/day visited our centre with lipid levels: T-CH 15.2 mmol/l, HDL-CH 1.26 mmol/l and triglycerides 16.2 mmol/l, LDL-CH couldn´t be calculated. ApoB was 1.84 g/l, TSH 1.18 mU/l. Secondary dyslipidemia was excluded. We analyzed genes for LDL-receptor, apo B, apo E and lipoprotein lipase (LPL). We performed the measurement of LPL activity and separation of plasma lipoproteins by ultracentrifugation (UC) as well. Results: Dysbetalipoproteinemia has been excluded (genotype apo E3/4) but surprisingly, HoFH (mutation p.Gly592Glu on both alleles of the LDL-receptor gene) has been detected. Furthermore, no functionally significant mutation in the LPL gene has been found. According to UC results, cholesterol and triglycerides were mostly carried by triglyceride-rich lipoproteins (d<1.006 g/ml). In addition to already mentioned examinations, we performed echocardiography (moderate aortal stenosis), coronarography (severe multiple coronary stenoses) and carotid sonography (carotid arteries were unaffected). Based on these results, urgent stenting was performed. Conclusions: In patient with severe hypertriglyceridemia, the HoFH with silent coronary ischemia has been confirmed. Cause of very high triglycerides remains still undetermined.

Citovat

KYSELÁK, Ondřej, Tomáš FREIBERGER, J KOVAR, L TICHY a Vladimír SOŠKA. ATYPICAL PHENOTYPE OF HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA. 2017. Dostupné z: https://dx.doi.org/10.1016/j.atherosclerosis.2017.06.732.

@proceedings{1740587,
   author = {Kyselák, Ondřej and Freiberger, Tomáš and Kovar, J and Tichy, L and Soška, Vladimír},
   doi = {http://dx.doi.org/10.1016/j.atherosclerosis.2017.06.732},
   language = {eng},
   title = {ATYPICAL PHENOTYPE OF HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA},
   url = {https://www.sciencedirect.com/science/article/pii/S0021915017309814?via%3Dihub},
   year = {2017}
}

TY  - CONF
ID  - 1740587
AU  - Kyselák, Ondřej - Freiberger, Tomáš - Kovar, J - Tichy, L - Soška, Vladimír
PY  - 2017
TI  - ATYPICAL PHENOTYPE OF HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
UR  - https://www.sciencedirect.com/science/article/pii/S0021915017309814?via%3Dihub
N2  - Aim: Homozygous familial hypercholesterolemia (HoFH) is the most serious hereditary dyslipidemia with prevalence about 1/160 000. If untreated, patients may develop coronary heart disease in very young age. Typical phenotype of HoFH is severe hypercholesterolemia with normal or slightly elevated triglycerides. Methods: Case report: 39 years old asymptomatic female treated with fenofibrate 200 mg/day visited our centre with lipid levels: T-CH 15.2 mmol/l, HDL-CH 1.26 mmol/l and triglycerides 16.2 mmol/l, LDL-CH couldn´t be calculated. ApoB was 1.84 g/l, TSH 1.18 mU/l. Secondary dyslipidemia was excluded. We analyzed genes for LDL-receptor, apo B, apo E and lipoprotein lipase (LPL). We performed the measurement of LPL activity and separation of plasma lipoproteins by ultracentrifugation (UC) as well. Results: Dysbetalipoproteinemia has been excluded (genotype apo E3/4) but surprisingly, HoFH (mutation p.Gly592Glu on both alleles of the LDL-receptor gene) has been detected. Furthermore, no functionally significant mutation in the LPL gene has been found. According to UC results, cholesterol and triglycerides were mostly carried by triglyceride-rich lipoproteins (d<1.006 g/ml). In addition to already mentioned examinations, we performed echocardiography (moderate aortal stenosis), coronarography (severe multiple coronary stenoses) and carotid sonography (carotid arteries were unaffected). Based on these results, urgent stenting was performed. Conclusions: In patient with severe hypertriglyceridemia, the HoFH with silent coronary ischemia has been confirmed. Cause of very high triglycerides remains still undetermined.
ER  -

KYSELÁK, Ondřej, Tomáš FREIBERGER, J KOVAR, L TICHY a Vladimír SOŠKA. \textit{ATYPICAL PHENOTYPE OF HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA}. 2017. Dostupné z: https://dx.doi.org/10.1016/j.atherosclerosis.2017.06.732.

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