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가족성 고콜레스테롤혈증의 스크린, 진단, 치료: 한국지질동맥경화학회 교육위원회 심포지엄

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

  • 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)
  • 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)
  • 발행 : 2018.12.31

초록

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.

키워드

참고문헌

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피인용 문헌

  1. Characteristics of Acute Cerebral Infarction in Patients with Familial Hypercholesterolemia vol.37, pp.4, 2018, https://doi.org/10.17340/jkna.2019.4.4