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Phenotypic and Genetic Analyses of Korean Patients with Familial Hypercholesterolemia: Results from the KFH Registry 2020

Authors
 Hyoeun Kim  ;  Chan Joo Lee  ;  Sang-Hyun Kim  ;  Jang Young Kim  ;  Sung Hee Choi  ;  Hyun-Jae Kang  ;  Kyong Soo Park  ;  Byung Ryul Cho  ;  Byung Jin Kim  ;  Ki Chul Sung  ;  In-Kyung Jeong  ;  Jin-Ok Jeong  ;  Jang-Whan Bae  ;  Jung Mi Park  ;  Yunbeom Lee  ;  Ilecheon Jeong  ;  Hyojun Han  ;  Ji Hyun Lee  ;  Sang-Hak Lee 
Citation
 JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS, Vol.29(8) : 1176-1187, 2022-08 
Journal Title
JOURNAL OF ATHEROSCLEROSIS AND THROMBOSIS
ISSN
 1340-3478 
Issue Date
2022-08
MeSH
Cholesterol, LDL / genetics ; DNA Copy Number Variations ; Humans ; Hyperlipoproteinemia Type II* / diagnosis ; Hyperlipoproteinemia Type II* / epidemiology ; Hyperlipoproteinemia Type II* / genetics ; Mutation ; Phenotype ; Receptors, LDL / genetics ; Registries ; Republic of Korea / epidemiology ; Xanthomatosis* / epidemiology ; Xanthomatosis* / genetics
Keywords
Diagnosis ; Far East ; Hyperlipoproteinemia type II ; Mutation
Abstract
Aims: Familial hypercholesterolemia (FH) is currently a worldwide health issue. Understanding the characteristics of patients is important for proper diagnosis and treatment. This study aimed to analyze the phenotypic and genetic features, including threshold cholesterol levels, of Korean patients with FH.

Methods: A total of 296 patients enrolled in the Korean FH registry were included, according to the following criteria: low-density lipoprotein-cholesterol (LDL-C) >190 mg/dL with tendon xanthoma or family history compatible with FH, or LDL-C >225 mg/dL. DNA sequences of three FH-associated genes were obtained using whole-exome or target exome sequencing. Threshold cholesterol levels for differentiating patients with FH/pathogenic variant (PV) carriers and predictors of PVs were identified.

Results: Of the 296 patients, 104 had PVs and showed more obvious clinical findings, including higher cholesterol levels. PV rates ranged from 30% to 64% when patients were categorized by possible or definite type according to the Simon Broome criteria. Frequent PV types included missense variants and copy number variations (CNVs), while the most frequent location of PVs was p.P685L in LDLR. The threshold LDL-C levels for patient differentiation and PV prediction were 177 and 225 mg/dL, respectively. Younger age, tendon xanthoma, and higher LDL-C levels were identified as independent predictors of PVs, while traditional cardiovascular risk factors were predictors of coronary artery disease.

Conclusions: Korean patients with FH had variable PV rates depending on diagnostic criteria and distinctive PV locations. The reported threshold LDL-C levels pave the way for efficient patient care in this population.
Files in This Item:
T202203111.pdf Download
DOI
10.5551/jat.63062
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Hyoeun(김효은) ORCID logo https://orcid.org/0000-0002-7334-9700
Lee, Sang Hak(이상학) ORCID logo https://orcid.org/0000-0002-4535-3745
Lee, Chan Joo(이찬주) ORCID logo https://orcid.org/0000-0002-8756-409X
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/191847
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