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2022 Consensus statement on the management of familial hypercholesterolemia in Korea

Authors
 Chan Joo Lee  ;  Minjae Yoon  ;  Hyun-Jae Kang  ;  Byung Jin Kim  ;  Sung Hee Choi  ;  In-Kyung Jeong  ;  Sang-Hak Lee 
Citation
 KOREAN JOURNAL OF INTERNAL MEDICINE, Vol.37(5) : 931-944, 2022-09 
Journal Title
KOREAN JOURNAL OF INTERNAL MEDICINE
ISSN
 1226-3303 
Issue Date
2022-09
MeSH
Adult ; Child ; Cholesterol, LDL ; Ezetimibe / therapeutic use ; Female ; Humans ; Hyperlipoproteinemia Type II* / diagnosis ; Hyperlipoproteinemia Type II* / drug therapy ; Hyperlipoproteinemia Type II* / genetics ; Proprotein Convertase 9 / genetics ; Xanthomatosis* / diagnosis ; Xanthomatosis* / etiology ; Xanthomatosis* / therapy
Keywords
Atherosclerosis ; Genetics ; Hyperlipoproteinemia type II ; Lipid metabolism ; Risk factors
Abstract
Familial hypercholesterolemia (FH) is the most common monogenic disorder. Due to the marked elevation of cardiovascular risk, the early detection, diagnosis, and proper management of this disorder are critical. Herein, the 2022 Korean guidance on this disease is presented. Clinical features include severely elevated low-density lipoprotein cholesterol (LDL-C) levels, tendon xanthomas, and premature coronary artery disease. Clinical diagnostic criteria include clinical findings, family history, or pathogenic mutations in the LDLR, APOB, or PCSK9. Proper suspicion of individuals with typical characteristics is essential for screening. Cascade screening is known to be the most efficient diagnostic approach. Early initiation of lipid-lowering therapy and the control of other risk factors are important. The first-line pharmacological treatment is statins, followed by ezetimibe, and PCSK9 inhibitors as required. The ideal treatment targets are 50% reduction and < 70 or < 55 mg/dL (in the presence of vascular disease) of LDL-C, although less strict targets are frequently used. Homozygous FH is characterized by untreated LDL-C > 500 mg/dL, xanthoma since childhood, and family history. In children, the diagnosis is made with criteria, including items largely similar to those of adults. In women, lipid-lowering agents need to be discontinued before conception.
Files in This Item:
T202203561.pdf Download
DOI
10.3904/kjim.2022.121
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
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/22282913/191960
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