A case of homozygous familial hypercholesterolemia with an
atypical phenotype and delayed clinical symptoms

J 2021

A case of homozygous familial hypercholesterolemia with an atypical phenotype and delayed clinical symptoms

KYSELÁK, Ondřej, Vladimír SOŠKA, Jan KOVAR, Lukas TICHY, Hana GROMBIŘÍKOVÁ et. al.

Basic information

Original name

A case of homozygous familial hypercholesterolemia with an atypical phenotype and delayed clinical symptoms

Authors

KYSELÁK, Ondřej (203 Czech Republic, belonging to the institution), Vladimír SOŠKA (203 Czech Republic, belonging to the institution), Jan KOVAR (203 Czech Republic), Lukas TICHY (203 Czech Republic), Hana GROMBIŘÍKOVÁ (203 Czech Republic, belonging to the institution), Jaroslav A. HUBACEK (203 Czech Republic) and Tomáš FREIBERGER (203 Czech Republic, guarantor, belonging to the institution)

Edition

Journal of Clinical Lipidology, New York, Elsevier, 2021, 1933-2874

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30104 Pharmacology and pharmacy

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 5.365

RIV identification code

RIV/00216224:14110/21:00121601

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1016/j.jacl.2021.04.006

UT WoS

000662981800008

Keywords in English

Homozygous familial hypercholesterolemia; Severe hypertriglyceridemia; Combined hyperlipidemia; LDLR gene variant; Polygenic score; Delayed diagnosis

Abstract

V originále

We describe the casuistry of a homozygous familial hypercholesterolemia female patient with a biallelic missense variant (NM_000527.4:c.1775G>A, p.Gly592Glu) in the LDLR gene, severe hypertriglyceridemia and late manifestation of coronary heart disease not earlier than at the age of 45 years. An atypical phenotype led to a delayed diagnosis.

Citovat

KYSELÁK, Ondřej, Vladimír SOŠKA, Jan KOVAR, Lukas TICHY, Hana GROMBIŘÍKOVÁ, Jaroslav A. HUBACEK and Tomáš FREIBERGER. A case of homozygous familial hypercholesterolemia with an atypical phenotype and delayed clinical symptoms. Journal of Clinical Lipidology. New York: Elsevier, 2021, vol. 15, No 3, p. 435-440. ISSN 1933-2874. Available from: https://dx.doi.org/10.1016/j.jacl.2021.04.006.

@article{1769337,
   author = {Kyselák, Ondřej and Soška, Vladimír and Kovar, Jan and Tichy, Lukas and Grombiříková, Hana and Hubacek, Jaroslav A. and Freiberger, Tomáš},
   article_location = {New York},
   article_number = {3},
   doi = {http://dx.doi.org/10.1016/j.jacl.2021.04.006},
   keywords = {Homozygous familial hypercholesterolemia; Severe hypertriglyceridemia; Combined hyperlipidemia; LDLR gene variant; Polygenic score; Delayed diagnosis},
   language = {eng},
   issn = {1933-2874},
   journal = {Journal of Clinical Lipidology},
   title = {A case of homozygous familial hypercholesterolemia with an atypical phenotype and delayed clinical symptoms},
   url = {https://www.sciencedirect.com/science/article/abs/pii/S1933287421000647#!},
   volume = {15},
   year = {2021}
}

TY  - JOUR
ID  - 1769337
AU  - Kyselák, Ondřej - Soška, Vladimír - Kovar, Jan - Tichy, Lukas - Grombiříková, Hana - Hubacek, Jaroslav A. - Freiberger, Tomáš
PY  - 2021
TI  - A case of homozygous familial hypercholesterolemia with an atypical phenotype and delayed clinical symptoms
JF  - Journal of Clinical Lipidology
VL  - 15
IS  - 3
SP  - 435-440
EP  - 435-440
PB  - Elsevier
SN  - 19332874
KW  - Homozygous familial hypercholesterolemia
KW  - Severe hypertriglyceridemia
KW  - Combined hyperlipidemia
KW  - LDLR gene variant
KW  - Polygenic score
KW  - Delayed diagnosis
UR  - https://www.sciencedirect.com/science/article/abs/pii/S1933287421000647#!
N2  - We describe the casuistry of a homozygous familial hypercholesterolemia female patient with a biallelic missense variant (NM_000527.4:c.1775G>A, p.Gly592Glu) in the LDLR gene, severe hypertriglyceridemia and late manifestation of coronary heart disease not earlier than at the age of 45 years. An atypical phenotype led to a delayed diagnosis.
ER  -

KYSELÁK, Ondřej, Vladimír SOŠKA, Jan KOVAR, Lukas TICHY, Hana GROMBIŘÍKOVÁ, Jaroslav A. HUBACEK and Tomáš FREIBERGER. A case of homozygous familial hypercholesterolemia with an atypical phenotype and delayed clinical symptoms. \textit{Journal of Clinical Lipidology}. New York: Elsevier, 2021, vol.~15, No~3, p.~435-440. ISSN~1933-2874. Available from: https://dx.doi.org/10.1016/j.jacl.2021.04.006.

Detailed Information on Publication Record