Tada Hayato, Okada Hirofumi, Yoshida Shohei, Shimojima Masaya, Nomura Akihiro, Tsuda Toyonobu, Mori Mika, Takashima Shin-Ichiro, Kato Takeshi, Usui Soichiro, Sakata Kenji, Hayashi Kenshi, Fujino Noboru, Inazu Akihiro, Nagase Katsuhiko, Mizukoshi Eishiro, Kawashiri Masa-Aki, Takamura Masayuki
Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences.
Department of Laboratory Science, Molecular Biochemistry and Molecular Biology, Graduate School of Medical Science, Kanazawa University.
J Atheroscler Thromb. 2025 Jul 1;32(7):887-895. doi: 10.5551/jat.65359. Epub 2024 Dec 28.
We aimed to clarify the degree and factors associated with low-density lipoprotein (LDL)-cholesterol treatment target attainment among patients with heterozygous familial hypercholesterolemia (HeFH) using the Hokuriku-plus FH registry.
The Hokuriku-plus FH registry (UMIN000038210) was a prospective, observational, multicenter cohort study that enrolled consecutive patients with FH who fulfilled the clinical criteria for FH in Japan from 37 participating hospitals, mostly in the Hokuriku region, from April 2020 to March 2024. This registry collects data on clinical parameters, including lipid levels, physical findings, genetic background, and clinical events. In total, 431 patients were enrolled, and the median followup period was 3.1 years. We assessed the degree and factors associated with LDL-cholesterol treatment target attainment among patients with HeFH using the Hokuriku-plus FH registry.
Among the 431 patients, sufficient data were collected from 386 patients. Logistic regression analysis revealed that male sex (odds ratio [OR] = 2.16, 95% confidence interval [CI]: 1.14-3.18, p＜0.001) and genetic testing (OR = 1.68, 95% CI: 1.10-2.26, p＜0.001) were significantly associated with LDL-cholesterol treatment target attainment. In fact, female patients were less likely to attain LDL-cholesterol treatment target than male patients (24.0% vs. 38.1%, p＜0.001), and patients who did not undergo genetic testing were less likely to attain LDL-cholesterol treatment target than those who underwent genetic testing (24.5% vs. 37.1%, p＜0.001).
Sex bias and masked genetic status are significant barriers to the clinical management of patients with HeFH.
我们旨在利用北陆加FH注册研究，阐明杂合子家族性高胆固醇血症（HeFH）患者低密度脂蛋白（LDL）-胆固醇治疗目标达成情况的程度及相关因素。
北陆加FH注册研究（UMIN000038210）是一项前瞻性、观察性、多中心队列研究，从2020年4月至2024年3月，连续纳入了来自日本37家参与医院（大多位于北陆地区）符合FH临床标准的FH患者。该注册研究收集临床参数数据，包括血脂水平、体格检查结果、遗传背景和临床事件。总共纳入了431例患者，中位随访期为3.1年。我们利用北陆加FH注册研究评估HeFH患者LDL-胆固醇治疗目标达成情况的程度及相关因素。
在431例患者中，从386例患者收集到了充分的数据。逻辑回归分析显示，男性（比值比[OR]=2.16，95%置信区间[CI]：1.14-3.18，p＜0.001）和基因检测（OR=1.68，95%CI：1.10-2.26，p＜0.001）与LDL-胆固醇治疗目标达成显著相关。事实上，女性患者比男性患者更难达到LDL-胆固醇治疗目标（24.0%对38.1%，p＜0.001），未进行基因检测的患者比进行基因检测的患者更难达到LDL-胆固醇治疗目标（24.5%对37.1%，p＜0.001）。
性别偏见和隐匿的遗传状态是HeFH患者临床管理的重大障碍。
