Validation of the 2022 Clinical Diagnostic Criteria of Familial Hypercholesterolemia in Japan
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- Tada Hayato
- Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kanazawa University
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- Nohara Atsushi
- Department of Clinical Genetics, Ishikawa Prefectural Central Hospital
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- Usui Soichiro
- Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kanazawa University
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- Sakata Kenji
- Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kanazawa University
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- Kawashiri Masa-aki
- Department of Internal Medicine, Kaga Medical Center
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- Takamura Masayuki
- Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kanazawa University
抄録
<p> Aim: In 2022, the Japan Atherosclerosis Society (JAS) has revised its clinical diagnostic criteria of familial hypercholesterolemia (FH) and adopted the use of definite, probable, possible, and unlikely FH according to the Dutch Lipid Clinic Network (DLCN) FH criteria. However, these strata have not been validated and their impact on coronary artery disease (CAD) is yet to be elucidated.</p><p>Methods: In this study, we retrospectively examined the patients with FH aged ≥ 15 years (N=857, male=431) who were admitted to Kanazawa University Hospital between 2010 and 2022. We assessed the prevalence of patients with a pathogenic variant as FH and odds ratio (OR) of CAD among each group determined by the JAS criteria 2022 for adults.</p><p>Results: In total, 414, 128, 142, and 173 patients were found to have definite, probable, possible, and unlikely FH, respectively, in this population. The prevalences of patients with a pathogenic variant as FH were 77.1%, 28.7%, 13.0%, and 1.2 %, respectively, among the definite, probable, possible, and unlikely FH patients (P-trend ＜0.001). Compared with the reference group of unlikely FH, patients with definite, probable, and possible FH were noted to have significantly higher adjusted odds of developing CAD (OR, 9.1; 95% confidence interval [CI], 3.2–12.6; P＜0.001 and OR, 4.2; 95% CI, 1.7–6.4; P＜0.001, and OR, 2.8; 95% CI, 1.2–4.4; P=0.002, respectively).</p><p>Conclusion: The new JAS diagnostic criteria for FH have been noted to work well in terms of diagnosing definitive, probable, or possible FH patients. Thus, it is seen to be of great help in terms of risk discrimination.</p>
収録刊行物
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- Ｊｏｕｒｎａｌ ｏｆ Ａｔｈｅｒｏｓｃｌｅｒｏｓｉｓ ａｎｄ Ｔｈｒｏｍｂｏｓｉｓ
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Ｊｏｕｒｎａｌ ｏｆ Ａｔｈｅｒｏｓｃｌｅｒｏｓｉｓ ａｎｄ Ｔｈｒｏｍｂｏｓｉｓ 31 (5), 550-558, 2024-05-01
一般社団法人 日本動脈硬化学会