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

被引：1

作者：

Kyselak, Ondrej ^{[1
,2
]}

Soska, Vladimir ^{[1
,2
]}

Kovar, Jan ^{[3
]}

Tichy, Lukas ^{[4
]}

Grombirikova, Hana ^{[5
,6
]}

Hubacek, Jaroslav A. ^{[3
]}

Freiberger, Tomas ^{[5
,6
]}

机构：

[1] St Annes Univ Hosp, Dept Clin Biochem, Pekarska 53, Brno 65691, Czech Republic

[2] Masaryk Univ, Dept Lab Methods, Komenskeho Nam 2, Brno 60200, Czech Republic

[3] Inst Clin & Expt Med IKEM, Ctr Expt Med, Videnska 1958, Prague 14021, Czech Republic

[4] Univ Hosp Brno, Ctr Mol Biol & Gene Therapy, Cernopolni 9, Brno 61300, Czech Republic

[5] Ctr Cardiovasc Surg & Transplantat, Pekarska 53, Brno 65691, Czech Republic

[6] Masaryk Univ, Fac Med, Kamenice 5, Brno 62500, Czech Republic

来源：

JOURNAL OF CLINICAL LIPIDOLOGY | 2021年 / 15卷 / 03期

关键词：

Homozygous familial hypercholesterolemia; Severe hypertriglyceridemia; Combined hyperlipidemia; LDLR gene variant; Polygenic score; Delayed diagnosis; LIPOPROTEIN-LIPASE; MUTATIONS;

D O I：

10.1016/j.jacl.2021.04.006

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

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. (C) 2021 National Lipid Association. Published by Elsevier Inc. All rights reserved.

引用

页码：435 / 440

页数：6

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