Publication details

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

Authors

KYSELÁK Ondřej SOŠKA Vladimír KOVAR Jan TICHY Lukas GROMBIŘÍKOVÁ Hana HUBACEK Jaroslav A. FREIBERGER Tomáš

Year of publication 2021
Type Article in Periodical
Magazine / Source Journal of Clinical Lipidology
MU Faculty or unit

Faculty of Medicine

Citation
web https://www.sciencedirect.com/science/article/abs/pii/S1933287421000647#!
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
Description 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.

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