Clinical Diagnostic Criteria of Familial Hypercholesterolemia　― A Comparison of the Japan Atherosclerosis Society and Dutch Lipid Clinic Network Criteria ―

• Tada Hayato

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

• Okada Hirofumi

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

• Nomura Akihiro

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

• Usui Soichiro

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

• Sakata Kenji

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

• Nohara Atsushi

  Department of Genetics, Ishikawa Prefectural Central Hospital

• Yamagishi Masakazu

  Osaka University of Human Sciences

• Takamura Masayuki

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

• Kawashiri Masa-aki

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

Abstract

Background:This study is aimed to compare the efficacy of the 2017 Japan Atherosclerosis Society (JAS) familial hypercholesterolemia (FH) criteria, which focuses on only 3 essential clinical manifestations, with that of Dutch Lipid Clinic Network (DLCN) FH criteria, which adopts a scoring system of multiple elements. Methods and Results:A total of 680 Japanese dyslipidemic participants (51% men) were enrolled between 2006 and 2018, all of whom had full evaluations of low-density lipoprotein (LDL) cholesterol, Achilles tendon X-rays, family history records, and genetic analysis of FH-associated genes (LDLR,APOB, andPCSK9). Predictive values for the existence of FH mutations by both clinical criteria were evaluated. Overall, 173 FH patients were clinically diagnosed by using the 2017 JAS criteria and 100, 57, 156, and 367 subjects were also diagnosed as having definite, probable, possible, and unlikely FH by the DLCN FH criteria, respectively. The positive and negative likelihood ratio predicting the presence of FH mutations by using the 2017 JAS FH criteria were 19.8 and 0.143, respectively; whereas, using the DLCN criteria of definite, probable, and possible FH, the ratios were 29.2 and 0.489, 9.70 and 0.332, and 3.43 and 0.040, respectively. Conclusions:Among Japanese patients, the JAS 2017 FH criteria is considered superior to diagnose FH mutation-positive patients and simultaneously rule out FH mutation-negative patients compared with the DLCN FH criteria.

Journal

• Circulation Journal

  Circulation Journal 85 (6), 891-897, 2021-05-25

  The Japanese Circulation Society

Keywords

• Achilles tendon thickness
• Familial hypercholesterolemia
• Genetic analysis
• Low-density lipoprotein receptor
• Proprotein convertase subtilisin/kexin type 9

Details

• CRID: 1390006662426587520
• NII Article ID: 130008043212
• NII Book ID: AA11591968
• DOI: 10.1253/circj.cj-20-0901
• ISSN: 13474820
• ISSN: 13469843
• NDL BIB ID: 031476059
• PubMed: 33268660
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I031476059
• Web Site: https://www.jstage.jst.go.jp/article/circj/85/6/85_CJ-20-0901/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2022035757
• Text Lang: en
• Data Source:
  • JaLC
  • NDL
  • Crossref
  • PubMed
  • CiNii Articles
  • KAKEN
• Abstract License Flag: Disallowed