Screening, Diagnosis, and Treatment of Familial Hypercholesterolemia: Symposium of the Education Committee, Korean Society of Lipid and Atherosclerosis.
10.12997/jla.2018.7.2.122
- Author:
Chan Joo LEE
1
;
Ji Hyun LEE
;
Seonghoon CHOI
;
Shin Hye KIM
;
Hyun Jae KANG
;
Sang Hak LEE
;
Kyong Soo PARK
Author Information
1. Department of Health Promotion, Yonsei University College of Medicine, Seoul, Korea.
- Publication Type:Original Article
- Keywords:
Lipids;
Atherosclerosis;
Genetics;
Mutation
- MeSH:
Adolescent;
Atherosclerosis*;
Child;
Diagnosis*;
Education*;
Epidemiology;
Genetics;
Hope;
Humans;
Hyperlipoproteinemia Type II*;
Korea;
Mass Screening*
- From:Journal of Lipid and Atherosclerosis
2018;7(2):122-154
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Familial hypercholesterolemia (FH) is typically associated with single gene mutation that is inherited by autosomal dominant manner. Due to high cardiovascular risk, aggressive discovery, diagnosis, and treatment of FH are critical. Although FH is being increasingly spotlighted, we do not have sufficient data on Korean patients with FH. Here, we present the content of symposium of the Education Committee, Korean Society of Lipid and Atherosclerosis held in May 2018: 1) epidemiology, clinical diagnosis, Korean FH data, and regulation in Korea; 2) genes associated with FH, sequencing process in suspicious proband, cascade screening, and difficulty in genetic diagnosis in FH; 3) the importance of lipid-lowering therapy in FH, conventional and novel therapeutics for FH; 4) diagnosis of FH in children and adolescence, screening, and treatment of FH in children and adolescence; 5) history of FH studies in Korea, the structure and current status of FH registry of Korean Society of Lipid and Atherosclerosis; and 6) difficulty in diagnosis of heterozygous and homozygous FH, drug intolerance and achievement of treatment target. Discussion between speakers and panels were also added. We hope that this article is helpful for understanding FH and future studies performed in Korea.
