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

Ondrej Kyselak; Vladimir Soska; Jan Kovar; Lukas Tichy; Hana Grombirikova; Jaroslav A Hubacek; Tomas Freiberger

doi:10.1016/j.jacl.2021.04.006

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

J Clin Lipidol. 2021 May-Jun;15(3):435-440. doi: 10.1016/j.jacl.2021.04.006. Epub 2021 Apr 21.

Authors

Ondrej Kyselak¹, Vladimir Soska², Jan Kovar³, Lukas Tichy⁴, Hana Grombirikova⁵, Jaroslav A Hubacek⁶, Tomas Freiberger⁷

Affiliations

¹ Department of Clinical Biochemistry, St. Anne's University Hospital, Pekarska 53, 656 91 Brno, Czechia; Department of Laboratory Methods, Masaryk University, Komenskeho nam. 2, 602 00 Brno, Czechia. Electronic address: ondrej.kyselak@fnusa.cz.
² Department of Clinical Biochemistry, St. Anne's University Hospital, Pekarska 53, 656 91 Brno, Czechia; Department of Laboratory Methods, Masaryk University, Komenskeho nam. 2, 602 00 Brno, Czechia. Electronic address: vladimir.soska@fnusa.cz.
³ Centre for Experimental Medicine, Institute for Clinical and Experimental Medicine (IKEM), Videnska 1958, 140 21 Prague, Czechia. Electronic address: jan.kovar@medicon.cz.
⁴ Centre for Molecular Biology and Gene Therapy, University Hospital Brno, Cernopolni 9, 613 00 Brno, Czechia. Electronic address: tichy.lukas@fnbrno.cz.
⁵ Centre for Cardiovascular Surgery and Transplantation, Pekarska 53, 656 91 Brno, Czechia; Faculty of Medicine, Masaryk University, Kamenice 5, 625 00 Brno, Czechia. Electronic address: hana.grombirikova@cktch.cz.
⁶ Centre for Experimental Medicine, Institute for Clinical and Experimental Medicine (IKEM), Videnska 1958, 140 21 Prague, Czechia. Electronic address: jahb@ikem.cz.
⁷ Centre for Cardiovascular Surgery and Transplantation, Pekarska 53, 656 91 Brno, Czechia; Faculty of Medicine, Masaryk University, Kamenice 5, 625 00 Brno, Czechia. Electronic address: tomas.freiberger@cktch.cz.

PMID: 33975813
DOI: 10.1016/j.jacl.2021.04.006

Abstract

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.

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

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Female
Genetic Testing / methods
Homozygote*
Humans
Hyperlipoproteinemia Type II / diagnosis
Hyperlipoproteinemia Type II / genetics*
Hyperlipoproteinemia Type II / physiopathology
Lipids / blood
Lipids / classification
Middle Aged
Multifactorial Inheritance
Mutation, Missense
Phenotype*
Polymorphism, Single Nucleotide
Severity of Illness Index

Substances

Lipids