Impact of Genetic Testing and Sex Differences among Patients with Familial Hypercholesterolemia: The Hokuriku-plus Familial Hypercholesterolemia Registry Study.

IF 3 2区医学 Q2 PERIPHERAL VASCULAR DISEASE

Journal of atherosclerosis and thrombosis Pub Date : 2024-12-28 DOI:10.5551/jat.65359

Hayato Tada, Hirofumi Okada, Shohei Yoshida, Masaya Shimojima, Akihiro Nomura, Toyonobu Tsuda, Mika Mori, Shin-Ichiro Takashima, Takeshi Kato, Soichiro Usui, Kenji Sakata, Kenshi Hayashi, Noboru Fujino, Akihiro Inazu, Katsuhiko Nagase, Eishiro Mizukoshi, Masa-Aki Kawashiri, Masayuki Takamura

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Abstract

Aim: 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.

Methods: 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.

Results: 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).

Conclusion: Sex bias and masked genetic status are significant barriers to the clinical management of patients with HeFH.

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家族性高胆固醇血症患者基因检测和性别差异的影响：Hokuriku-plus家族性高胆固醇血症登记研究

目的：我们旨在通过Hokuriku-plus FH登记，阐明杂合性家族性高胆固醇血症（HeFH）患者低密度脂蛋白(LDL)-胆固醇治疗目标达到的程度和相关因素。方法：北ku + FH登记（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，从日本37家参与医院（主要在北ku地区）连续招募符合FH临床标准的FH患者。该注册表收集有关临床参数的数据，包括血脂水平、身体检查结果、遗传背景和临床事件。共纳入431例患者，中位随访期为3.1年。我们使用Hokuriku-plus FH登记来评估HeFH患者ldl -胆固醇治疗目标达到的程度和相关因素。结果：431例患者中，386例患者收集了充分的资料。Logistic回归分析显示，男性（优势比[OR] = 2.16, 95%可信区间[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）与低密度脂蛋白胆固醇治疗目标的实现显著相关。事实上，女性患者达到低密度脂蛋白胆固醇治疗目标的可能性低于男性患者（24.0%比38.1%,p<0.001），未接受基因检测的患者达到低密度脂蛋白胆固醇治疗目标的可能性低于接受基因检测的患者（24.5%比37.1%,p<0.001）。结论：性别偏见和基因隐匿是影响HeFH患者临床管理的重要障碍。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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