Journal of Lipid and Atherosclerosis (지질동맥경화학회지)

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

가족성 고콜레스테롤혈증의 스크린, 진단, 치료: 한국지질동맥경화학회 교육위원회 심포지엄

  • Lee, Chan Joo (Department of Health Promotion, Yonsei University College of Medicine) ;
  • Lee, Ji Hyun (Department of Clinical Pharmacology and Therapeutics, Kyung Hee University College of Medicine) ;
  • Choi, Seonghoon (Division of Cardiology, Department of Internal Medicine, Kangnam Sacred Heart Hospital, Hallym University College of Medicine) ;
  • Kim, Shin-Hye (Department of Pediatrics, Inje University Sanggye Paik Hospital) ;
  • Kang, Hyun-Jae (Department of Internal Medicine and Cardiovascular Center, Seoul National University Hospital) ;
  • Lee, Sang-Hak (Division of Cardiology, Department of Internal Medicine, Severance Hospital, Yonsei University College of Medicine) ;
  • Park, Kyong Soo (Department of Internal Medicine, Seoul National University College of Medicine)
  • 이찬주 (연세대학교 의과대학 건강의학과) ;
  • 이지현 (경희대학교 의과대학 임상약리학교실) ;
  • 최성훈 (한림대학교 의과대학 강남성심병원 순환기내과) ;
  • 김신혜 (인제대학교 의과대학 상계백병원 소아청소년과) ;
  • 강현재 (서울대학교병원 내과학교실, 심혈관센터) ;
  • 이상학 (연세대학교 의과대학 세브란스병원 내과학교실 심장내과) ;
  • 박경수 (울대학교 의과대학 내과학교실)
  • Published : 2018.12.31
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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.

Keywords

References

  1. Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol 2004;160:407-420. https://doi.org/10.1093/aje/kwh236
  2. Hovingh GK, Davidson MH, Kastelein JJ, O'Connor AM. Diagnosis and treatment of familial hypercholesterolaemia. Eur Heart J 2013;34:962-971.
  3. de Ferranti SD, Rodday AM, Mendelson MM, Wong JB, Leslie LK, Sheldrick RC. Prevalence of familial hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES). Circulation 2016;133:1067-1072. https://doi.org/10.1161/CIRCULATIONAHA.115.018791
  4. Shin DG, Han SM, Kim DI, Rhee MY, Lee BK, Ahn YK, et al. 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 2015;243:53-58. https://doi.org/10.1016/j.atherosclerosis.2015.08.033
  5. Han SM, Hwang B, Park TG, Kim DI, Rhee MY, Lee BK, et al. Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing. PLoS One 2015;10:e0126706. https://doi.org/10.1371/journal.pone.0126706
  6. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405-424. https://doi.org/10.1038/gim.2015.30
  7. Nordestgaard BG, Chapman MJ, Humphries SE, Ginsberg HN, Masana L, Descamps OS, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J 2013;34:3478-3490. https://doi.org/10.1093/eurheartj/eht273
  8. Raal FJ, Pilcher GJ, Panz VR, van Deventer HE, Brice BC, Blom DJ, et al. Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy. Circulation 2011;124:2202-2207. https://doi.org/10.1161/CIRCULATIONAHA.111.042523
  9. Thompson GR, Blom DJ, Marais AD, Seed M, Pilcher GJ, Raal FJ. Survival in homozygous familial hypercholesterolaemia is determined by the on-treatment level of serum cholesterol. Eur Heart J 2018;39:1162-1168. https://doi.org/10.1093/eurheartj/ehx317
  10. Oh J, Lee CJ, Kim DI, Rhee MY, Lee BK, Ahn Y, et al. Target achievement with maximal statin-based lipid-lowering therapy in Korean patients with familial hypercholesterolemia: a study supported by the Korean Society of Lipid and Atherosclerosis. Clin Cardiol 2017;40:1291-1296. https://doi.org/10.1002/clc.22826
  11. Raal FJ, Honarpour N, Blom DJ, Hovingh GK, Xu F, Scott R, et al. Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial. Lancet 2015;385:341-350. https://doi.org/10.1016/S0140-6736(14)61374-X
  12. Stein EA, Gipe D, Bergeron J, Gaudet D, Weiss R, Dufour R, et al. Effect of a monoclonal antibody to PCSK9, REGN727/SAR236553, to reduce low-density lipoprotein cholesterol in patients with heterozygous familial hypercholesterolaemia on stable statin dose with or without ezetimibe therapy: a phase 2 randomised controlled trial. Lancet 2012;380:29-36. https://doi.org/10.1016/S0140-6736(12)60771-5
  13. Raal F, Scott R, Somaratne R, Bridges I, Li G, Wasserman SM, et al. Low-density lipoprotein cholesterol-lowering effects of AMG 145, a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 serine protease in patients with heterozygous familial hypercholesterolemia: the Reduction of LDL-C with PCSK9 Inhibition in Heterozygous Familial Hypercholesterolemia Disorder (RUTHERFORD) randomized trial. Circulation 2012;126:2408-2417. https://doi.org/10.1161/CIRCULATIONAHA.112.144055
  14. Wiegman A, Gidding SS, Watts GF, Chapman MJ, Ginsberg HN, Cuchel M, et al. Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment. Eur Heart J 2015;36:2425-2437. https://doi.org/10.1093/eurheartj/ehv157
  15. Stock J. Landmark position paper on paediatric familial hypercholesterolaemia from the EAS Consensus Panel. Atherosclerosis 2015;242:277-280. https://doi.org/10.1016/j.atherosclerosis.2015.06.021
  16. Daniels SR, Gidding SS, de Ferranti SDNational Lipid Association Expert Panel on Familial Hypercholesterolemia. Pediatric aspects of familial hypercholesterolemias: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011;5:S30-S37. https://doi.org/10.1016/j.jacl.2011.03.453

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