目的:2022年,日本动脉粥样硬化学会(JAS)修订了家族性高胆固醇血症(FH)的临床诊断标准,可能,可能,根据荷兰脂质诊所网络(DLCN)FH标准,FH不太可能。然而,这些地层尚未得到验证,它们对冠状动脉疾病(CAD)的影响尚待阐明.
方法:在本研究中,我们回顾性检查了2010年至2022年间金泽大学医院收治的FH≥15岁患者(N=857,男性=431).我们评估了根据JAS标准2022确定的各组中具有致病性变异的患者的患病率,即FH和CAD的比值比(OR)。
结果:总计,414、128、142和173名患者被发现有明确的,可能,可能,不太可能,分别,在这个人口中。具有致病性变异的FH患者的患病率为77.1%,28.7%,13.0%,和1.2%,分别,在确定的,可能,可能,和不太可能的FH患者(P趋势<0.001)。与不太可能FH的参考组相比,明确的患者,可能,并且可能的FH被发现具有明显更高的发展CAD的调整几率(OR,9.1;95%置信区间[CI],3.2-12.6;P<0.001,OR,4.2;95%CI,1.7-6.4;P<0.001,OR,2.8;95%CI,1.2-4.4;P=0.002)。
结论:已注意到新的JASFH诊断标准在明确诊断方面效果良好,可能,或可能的FH患者。因此,它被认为在风险歧视方面有很大帮助。
OBJECTIVE: 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.
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.
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).
CONCLUSIONS: 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.