Abstract：
OBJECTIVE: Little data exists for evaluating the prevalence and patient characteristics of familial hypercholesterolemia (FH) according to the latest 2022 guidelines for FH published by the Japan Atherosclerosis Society (JAS), which revised the Achilles tendon thickness (ATT) threshold from 9.0 mm in both sexes to 8.0 mm in men and 7.5 mm in women. This study used a nationwide registry of patients with acute coronary syndrome (ACS) to evaluate the prevalence of FH according to the latest diagnostic criteria for FH and to investigate the application of Achilles tendon imaging in the diagnosis of FH.A previous prospective observational study at 59 Japanese centers involving consecutive patients with ACS who were managed between April 2015 and August 8, 2016 was conducted to explore lipid management and persistent risk in patients hospitalized for ACS (EXPLORE-J). The study population consisted of 1,944 EXPLORE-J enrollees.
RESULTS: According to the diagnostic criteria for FH in the 2022 JAS guidelines, the prevalence of probable or definite was among patients with ACS was 6.6% (127/1944). Among patients with premature ACS (male, age ＜55 years; female, age ＜65 years), the prevalence of FH was 10.1% (43/427). The mean ages were of the probable FH and definite FH groups were 59.9 and 61.0 years, respectively, while the mean age of the possible-or-unlikely FH group was 66.4 years (significantly older). Relative to the possible-or-unlikely FH group, the low-density lipoprotein cholesterol (LDL-C) levels were similar in the probable FH group and and significantly higher in the definite FH group.
CONCLUSIONS: The prevalence of FH was considerably higher than previously reported, especially for patients with premature ACS. The age and LDL-C levels of the patients in the probable FH and definite FH groups were similar.
RESULTS: According to the diagnostic criteria for FH in the 2022 JAS guidelines, the prevalence of probable or definite was among patients with ACS was 6.6% (127/1944). Among patients with premature ACS (male, age ＜55 years; female, age ＜65 years), the prevalence of FH was 10.1% (43/427). The mean ages were of the probable FH and definite FH groups were 59.9 and 61.0 years, respectively, while the mean age of the possible-or-unlikely FH group was 66.4 years (significantly older). Relative to the possible-or-unlikely FH group, the low-density lipoprotein cholesterol (LDL-C) levels were similar in the probable FH group and and significantly higher in the definite FH group.
CONCLUSIONS: The prevalence of FH was considerably higher than previously reported, especially for patients with premature ACS. The age and LDL-C levels of the patients in the probable FH and definite FH groups were similar.
摘要：
目标：根据日本动脉粥样硬化学会（JAS）发布的最新2022年FH指南，用于评估家族性高胆固醇血症（FH）的患病率和患者特征的数据很少，将男女跟腱厚度（ATT）阈值从9.0mm修改为男性8.0mm，女性7.5mm。本研究采用全国急性冠脉综合征(ACS)患者登记方法,根据FH的最新诊断标准,评价FH的患病率,探讨跟腱显像在FH诊断中的应用。先前在59个日本中心进行了一项前瞻性观察研究，涉及2015年4月至2016年8月8日期间连续管理的ACS患者，以探讨ACS住院患者的脂质管理和持续风险（EXPLORE-J）。研究人群由1,944名EXPLORE-J参与者组成。
结果：根据2022JAS指南中FH的诊断标准，在ACS患者中,“可能存在”或“明确存在”的患病率为6.6%(127/1944).在患有过早ACS（男性，年龄＜55岁；女性，年龄＜65岁），FH的患病率为10.1%(43/427).可能的FH和明确的FH组的平均年龄分别为59.9和61.0岁，分别,而可能或不可能的FH组的平均年龄为66.4岁（年龄明显更大）。相对于可能或不可能的FH组，低密度脂蛋白胆固醇（LDL-C）水平在可能的FH组中相似，在确定的FH组中明显更高。
结论：FH的患病率比以前报道的要高得多，特别是对于早期ACS患者。可能FH组和确定FH组患者的年龄和LDL-C水平相似。
结果：根据2022JAS指南中FH的诊断标准，在ACS患者中,“可能存在”或“明确存在”的患病率为6.6%(127/1944).在患有过早ACS（男性，年龄＜55岁；女性，年龄＜65岁），FH的患病率为10.1%(43/427).可能的FH和明确的FH组的平均年龄分别为59.9和61.0岁，分别,而可能或不可能的FH组的平均年龄为66.4岁（年龄明显更大）。相对于可能或不可能的FH组，低密度脂蛋白胆固醇（LDL-C）水平在可能的FH组中相似，在确定的FH组中明显更高。
结论：FH的患病率比以前报道的要高得多，特别是对于早期ACS患者。可能FH组和确定FH组患者的年龄和LDL-C水平相似。
