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Clinical features of familial hypercholesterolemia in Korea: Predictors of pathogenic mutations and coronary artery disease - A study supported by the Korean Society of Lipidology and Atherosclerosis.

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Author(s)
Dong Geum ShinSoo Min HanDoo Il KimMoo-Yong RheeByoung-Kwon LeeYoung Keun AhnByung Ryul ChoJeong-Taek WooSeung-Ho HurJin-Ok JeongYangsoo JangJi Hyun LeeSang-Hak Lee
Keimyung Author(s)
Hur, Seung Ho
Department
Dept. of Internal Medicine (내과학)
Journal Title
Atherosclerosis
Issued Date
2015
Volume
243
Issue
1
Keyword
Hyperlipoproteinemia type IIDiagnosisMutationSensitivity and specificityCoronary artery disease
Abstract
Background: Proper screening and diagnosis of familial hypercholesterolemia (FH) is of critical importance
for cardiovascular prevention. However, the clinical diagnosis of FH remains difficult partly because
its phenotype can vary between different ethnicities. The aim of this study was to determine the clinical
features and the best diagnostic approach in Korean FH patients. The predictors of putative pathogenic
mutations and coronary artery disease (CAD) were also identified.
Methods and Results: Ninety-seven patients with low-density lipoprotein-cholesterol >190 mg/dL and
xanthoma or FH-compatible family history were included. Putative pathogenic mutations in LDLR, APOB,
or PCSK9 genes were identified in 32% of the enrolled patients. The subjects were classified according to
four sets of clinical criteria (Simon Broome, Dutch, MEDPED, Japanese). The mutation rates in definite
type FH of Simon Broome or Dutch criteria were 35%e37% and lower in our patients than in those of
other countries. The mutation detection rate by MEDPED criteria was 67%e75% and higher than those
based on other criteria. The best low-density lipoprotein-cholesterol (LDL-C) threshold for predicting
mutations was 225 mg/dL. LDL-C was found to be the only independent predictor of mutation carriers,
while hypertension and low high-density lipoprotein-cholesterol were predictive of CAD.
Conclusions: The conventional clinical criteria showed limited mutation detection power and low
specificities in Korean FH patients, in whom the best LDL-C threshold for putative mutation was 225 mg/
dL. Traditional cardiovascular risk factors were also significantly associated with CAD risk in this
population.
Keimyung Author(s)(Kor)
허승호
Publisher
School of Medicine
Citation
Dong Geum Shin et al. (2015). Clinical features of familial hypercholesterolemia in Korea: Predictors of pathogenic mutations and coronary artery disease - A study supported by the Korean Society of Lipidology and Atherosclerosis. Atherosclerosis, 243(1), 53–58. doi: 10.1016/j.atherosclerosis.2015.08.033
Type
Article
ISSN
0021-9150
Source
https://www.sciencedirect.com/science/article/pii/S0021915015300964?via%3Dihub
DOI
10.1016/j.atherosclerosis.2015.08.033
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/32912
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Internal Medicine (내과학)
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