Improved Efficiency of the Clinical Diagnostic Criteria for Familial Hypercholesterolemia in Children: A Comparison of the Japan Atherosclerosis Society Guidelines of 2017 and 2022

Author:

Fu Hai Ying1,Matsunaga Keiji1,Inoue Tomoko1,Tani Ryosuke1,Funatsuki Kenzo1,Iwase Takashi2,Kondo Sonoko2,Nishioka Katsufumi2,Ito Shigeru3,Sasaki Tsuyoshi4,Yokota Ichiro5,Hoshikawa Yoichi6,Yokoyama Katsunori6,Fujisawa Takuji7,Kawashiri Masa-aki8,Tada Hayato8,Takamura Masayuki8,Kusaka Takashi2,Minamino Tetsuo1

Affiliation:

1. Department of Cardiorenal and Cerebrovascular Medicine, Faculty of Medicine, Kagawa University

2. Department of Pediatrics, Faculty of Medicine, Kagawa University

3. Department of Pediatrics, Kagawa Prefectural Central Hospital

4. Department of Pediatrics, Mitoyo General Hospital

5. Department of Pediatrics, Division of Pediatric Endocrinology and Metabolism, National Hospital Organization Shikoku Medical Center for Children and Adults

6. Department of Health and Welfare, Kagawa Prefectural Government

7. Fujisawa Pediatric Clinic

8. Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kanazawa University

Publisher

Japan Atherosclerosis Society

Subject

Biochemistry (medical),Cardiology and Cardiovascular Medicine,Internal Medicine

Reference19 articles.

1. 1) Hu P, Dharmayat KI, Stevens CAT, Sharabiani MTA, Jones RS, Watts GF, Genest J, Ray KK, Vallejo-Vaz AJ: Prevalence of Familial Hypercholesterolemia Among the General Population and Patients With Atherosclerotic Cardiovascular Disease: A Systematic Review and Meta-Analysis. Circulation, 2020; 141: 1742-1759

2. 2) Khera AV, Won HH, Peloso GM, Lawson KS, Bartz TM, Deng X, van Leeuwen EM, Natarajan P, Emdin CA, Bick AG, Morrison AC, Brody JA, Gupta N, Nomura A, Kessler T, Duga S, Bis JC, van Duijn CM, Cupples LA, Psaty B, Rader DJ, Danesh J, Schunkert H, McPherson R, Farrall M, Watkins H, Lander E, Wilson JG, Correa A, Boerwinkle E, Merlini PA, Ardissino D, Saleheen D, Gabriel S, Kathiresan S: Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia. J Am Coll Cardiol, 2016; 67: 2578-2589

3. 3) Wiegman A, Gidding SS, Watts GF, Chapman MJ, Ginsberg HN, Cuchel M, Ose L, Averna M, Boileau C, Borén J, Bruckert E, Catapano AL, Defesche JC, Descamps OS, Hegele RA, Hovingh GK, Humphries SE, Kovanen PT, Kuivenhoven JA, Masana L, Nordestgaard BG, Pajukanta P, Parhofer KG, Raal FJ, Ray KK, Santos RD, Stalenhoef AF, Steinhagen-Thiessen E, Stroes ES, Taskinen MR, Tybjærg-Hansen A, Wiklund O; European Atherosclerosis Society Consensus Panel: Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment. Eur Heart J, 2015; 36: 2425-2437

4. 4) Sturm AC, Truty R, Callis TE, Aguilar S, Esplin ED, Garcia S, Haverfield EV, Morales A, Nussbaum RL, Rojahn S, Vatta M, Rader DJ: Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis. JAMA Cardiol, 2021; 6: 902-909

5. 5) Harada-Shiba M, Arai H, Ishigaki Y, Ishibashi S, Okamura T, Ogura M, Dobashi K, Nohara A, Bujo H, Miyauchi K, Yamashita S, Yokote K; Working Group by Japan Atherosclerosis Society for Making Guidance of Familial Hypercholesterolemia: Guidelines for Diagnosis and Treatment of Familial Hypercholesterolemia 2017. J Atheroscler Thromb, 2018; 25: 751-770

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