J Lipid Atheroscler.  2018 Dec;7(2):122-154. 10.12997/jla.2018.7.2.122.

Screening, Diagnosis, and Treatment of Familial Hypercholesterolemia: Symposium of the Education Committee, Korean Society of Lipid and Atherosclerosis

• Lee CJ
• Lee JH
• Choi S
• Kim SH
• Kang HJ
• Lee SH
• Park KS

• KMID: 2429832
• DOI: http://doi.org/10.12997/jla.2018.7.2.122

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.

Keyword

Lipids; Atherosclerosis; Genetics; Mutation

MeSH Terms

Adolescent
Atherosclerosis*
Child
Diagnosis*
Education*
Epidemiology
Genetics
Hope
Humans
Hyperlipoproteinemia Type II*
Korea
Mass Screening*

Figure

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  Fig. 1 Receiver operating characteristic curves for total cholesterol and LDL-C and the presence of putative pathogenic variant carreirs. The best threshold values identified with the sum of sensitivity and specificity are indicated (from reference Shin et al.4 with permission). LDL-C, low-density lipoprotein-cholesterol; TC, total cholesterol; AUC, area under the curve.

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  Fig. 2 Serial single-gene testing and multi-gene panel testing.

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  Fig. 3 A flow example of screening and interpretation of variants potentially causing FH. FH, familial hypercholesterolemia; NGS, next-generation sequencing; SNV, single nucleotide variant; CNV, copy number variation.

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  Fig. 4 LDL-C burden in individual with or without FH as a function of the age of initiation of statin therapy (from Nordestgaard et al.7 Permission waived). LDL-C, low-density lipoprotein-cholesterol; FH, familial hypercholesterolemia; hoFH, homozygous familial hypercholesterolemia; heFH, heterozygous familial hypercholesterolemia; HDL-C, high-density lipoprotein-cholesterol; CHD, coronary heart disease; TG, triglyceride.

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