Hokuriku-plus familial hypercholesterolaemia registry study: rationale and study design

Area of Science:

• Cardiology
• Genetics
• Epidemiology

Background:

• Familial hypercholesterolemia (FH) is an inherited disorder causing extremely high cardiovascular risk due to elevated LDL cholesterol.
• Existing registries are primarily European, with limited multicenter data available for Japanese populations.
• Understanding the cardiovascular risk profile and genetic background of Japanese FH patients is crucial.

Purpose of the Study:

• To establish the Hokuriku-plus FH registry, a multicenter cohort study in Japan.
• To comprehensively assess cardiovascular risk factors and clinical events in Japanese FH patients.
• To investigate the genetic backgrounds contributing to FH in this population.

Main Methods:

• A prospective, observational, multicenter cohort study enrolling 1000 FH patients from 37 hospitals in Japan.
• Data collection includes lipids, physical findings, genetic information, and clinical events over a 5-year follow-up period.
• Primary endpoint: new atherosclerotic cardiovascular disease (ASCVD) events; secondary endpoints include LDL cholesterol levels and other comorbidities.

Main Results:

• Data collection is ongoing, with enrollment from April 2020 to March 2024.
• The study aims to provide the first comprehensive multicenter data on Japanese FH patients.
• Analysis will focus on ASCVD events, LDL cholesterol, and associated conditions like malignancies.

Conclusions:

• The Hokuriku-plus FH registry will provide critical insights into cardiovascular risk in Japanese FH patients.
• Findings will inform clinical management and public health strategies for FH in Japan.
• This study addresses a significant gap in multicenter data for this high-risk genetic disorder.