DIFFERENT PHENOTYPES IN SIBLINGS WITH HETEROZYGOUS FAMILIAL
HYPERCHOLESTEROLEMIA

a 2018

DIFFERENT PHENOTYPES IN SIBLINGS WITH HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

KYSELÁK, Ondřej a Vladimír SOŠKA

Základní údaje

Originální název

DIFFERENT PHENOTYPES IN SIBLINGS WITH HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

Autoři

KYSELÁK, Ondřej a Vladimír SOŠKA

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.2018.06.555

UT WoS

000442512600567

Příznaky

Mezinárodní význam

Změněno: 11. 2. 2021 11:19, Mgr. Tereza Miškechová

Anotace

V originále

Aim: Familial hypercholesterolemia (FH) is serious hereditary disease with prevalence about 1/200 in general population. FH is usually caused by mutation in LDL receptor gene, which leads to severe hypercholesterolemia. Typical phenotype of FH patients is very high concentration of LDL cholesterol and Apo B with normal or slightly increased triglycerides. Methods: Case report: During cascade screening in the family of our FH proband (man aged 43 years with confirmed mutation p.Asp266Glu in LDLR gene) we performed biochemical and DNA analysis of his two daughters (22 and 19 years old), which has confirmed the same mutation in both of them. Following laboratory results of these siblings were without hypolipidemic treatment: T-C 7.10 mmol/l, LDL-C 5.0 mmol/l, triglycerides 1.37 mmol/l, Apo B 1.57 g/l and T-C 5.18 mmol/l, LDL-C 3.35 mmol/l, triglycerides 1.29 mmol/l, Apo B 0.90 g/l respectively. Both sisters were without any clinical signs of hypercholesterolemia. Results: We have identified two family members (daughters of FH proband) with heterozygous FH with identical mutation in LDLR gene but with very different phenotype. Conclusions: Diagnostic procedure based only on biochemical analysis of blood lipids can be insufficient to identify all the FH patients in families with heterozygous FH and may lead to diagnostic fail. Therefore, the genetic testing should be performed in all members of FH families.

Citovat

KYSELÁK, Ondřej a Vladimír SOŠKA. DIFFERENT PHENOTYPES IN SIBLINGS WITH HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA. 2018. Dostupné z: https://dx.doi.org/10.1016/j.atherosclerosis.2018.06.555.

@proceedings{1740585,
   author = {Kyselák, Ondřej and Soška, Vladimír},
   doi = {http://dx.doi.org/10.1016/j.atherosclerosis.2018.06.555},
   language = {eng},
   title = {DIFFERENT PHENOTYPES IN SIBLINGS WITH HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA},
   url = {https://www.sciencedirect.com/science/article/pii/S0021915018308670?via%3Dihub},
   year = {2018}
}

TY  - CONF
ID  - 1740585
AU  - Kyselák, Ondřej - Soška, Vladimír
PY  - 2018
TI  - DIFFERENT PHENOTYPES IN SIBLINGS WITH HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
UR  - https://www.sciencedirect.com/science/article/pii/S0021915018308670?via%3Dihub
N2  - Aim: Familial hypercholesterolemia (FH) is serious hereditary disease with prevalence about 1/200 in general population. FH is usually caused by mutation in LDL receptor gene, which leads to severe hypercholesterolemia. Typical phenotype of FH patients is very high concentration of LDL cholesterol and Apo B with normal or slightly increased triglycerides. Methods: Case report: During cascade screening in the family of our FH proband (man aged 43 years with confirmed mutation p.Asp266Glu in LDLR gene) we performed biochemical and DNA analysis of his two daughters (22 and 19 years old), which has confirmed the same mutation in both of them. Following laboratory results of these siblings were without hypolipidemic treatment: T-C 7.10 mmol/l, LDL-C 5.0 mmol/l, triglycerides 1.37 mmol/l, Apo B 1.57 g/l and T-C 5.18 mmol/l, LDL-C 3.35 mmol/l, triglycerides 1.29 mmol/l, Apo B 0.90 g/l respectively. Both sisters were without any clinical signs of hypercholesterolemia. Results: We have identified two family members (daughters of FH proband) with heterozygous FH with identical mutation in LDLR gene but with very different phenotype. Conclusions: Diagnostic procedure based only on biochemical analysis of blood lipids can be insufficient to identify all the FH patients in families with heterozygous FH and may lead to diagnostic fail. Therefore, the genetic testing should be performed in all members of FH families.
ER  -

KYSELÁK, Ondřej a Vladimír SOŠKA. \textit{DIFFERENT PHENOTYPES IN SIBLINGS WITH HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA}. 2018. Dostupné z: https://dx.doi.org/10.1016/j.atherosclerosis.2018.06.555.

Podrobný výpis o publikaci