Observational studyJournal of atherosclerosis and thrombosis2025
Impact of Genetic Testing and Sex Differences among Patients with Familial Hypercholesterolemia: The Hokuriku-plus Familial Hypercholesterolemia Registry Study.
Observational study in Journal of atherosclerosis and thrombosis, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed.
- An Improved Prognosis in Subjects With Homozygous Familial Hypercholesterolemia Associated With Advances in LDL-Lowering Therapy.Journal of atherosclerosis and thrombosis · 2026Article
- The Mysterious Question on Discordance between Achilles Tendon Thickness Assessed by Ultrasound and X-ray Has been Solved.Journal of atherosclerosis and thrombosis · 2026Article
- The impact of genetic testing on physician practice in specialized cardiovascular clinics.Journal of clinical lipidology · 2026Article
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Authors and funding
19 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimWe 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.
methodsThe 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.
resultsAmong 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).
conclusionSex bias and masked genetic status are significant barriers to the clinical management of patients with HeFH.
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