2022 Consensus statement on the management of familial hypercholesterolemia in Korea
Open Access
- 27 July 2022
- journal article
- review article
- Published by Korean Association of Internal Medicine in The Korean Journal of Internal Medicine
- Vol. 37 (5), 931-944
- https://doi.org/10.3904/kjim.2022.121
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.Keywords
Funding Information
- Korean Society of Lipid and Atherosclerosis
This publication has 50 references indexed in Scilit:
- Genetic Testing of Korean Familial Hypercholesterolemia Using Whole-Exome SequencingPLOS ONE, 2015
- Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis SocietyEuropean Heart Journal, 2014
- 2013 ACC/AHA Guideline on the Treatment of Blood Cholesterol to Reduce Atherosclerotic Cardiovascular Risk in AdultsJournal of Invasive Cardiology, 2014
- Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis SocietyEuropean Heart Journal, 2013
- Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 studyThe Lancet, 2012
- Efficacy and safety of more intensive lowering of LDL cholesterol: a meta-analysis of data from 170 000 participants in 26 randomised trialsThe Lancet, 2010
- Mipomersen, an apolipoprotein B synthesis inhibitor, for lowering of LDL cholesterol concentrations in patients with homozygous familial hypercholesterolaemia: a randomised, double-blind, placebo-controlled trialThe Lancet, 2010
- Efficacy of statins in familial hypercholesterolaemia: a long term cohort studyBMJ, 2008
- Development of sensitive and specific age- and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testingcclm, 2008
- Genetic Causes of Monogenic Heterozygous Familial Hypercholesterolemia: A HuGE Prevalence ReviewAmerican Journal of Epidemiology, 2004