Collaborative Approach to Reach Everyone with Familial Hypercholesterolemia: CARE-FH

项目摘要 家族性高胆固醇血症（FH）是一种常见的遗传性疾病（患病率为1/250），需要终身 持续的医疗护理。存在FH筛查和治疗的循证指南。这些包括 对9-11岁的儿童、18-20岁的青少年和40岁及以上的成年人进行普遍筛查; 批准的诊断工具，包括血脂检测和基因检测;以及启动血脂检测的建议。 降低药物。FH的诊断目前是在生命中太晚，往往在过早的心脏病发作后， 发生了一个护理缺口，导致过度的心血管发病率和死亡率。诊断FH 初级保健设置将优化FH患者的治疗，并缩小这一保健差距。使用各种工具 从实施科学和以人为本的设计，并考虑吸收，可接受性， 与FH护理相关的项目的可持续性应改善早期诊断。执行战略， 包括来自患者、临床医生和医疗保健系统的见解。我们的长期目标是 创建一个有效的FH诊断程序，在现实世界中是实用和可持续的。主要 本项目的目标是确定FH诊断程序整合到初级保健中的吸收情况 促进早期识别成人和儿童患者的做法，可推广到其他医疗保健 设置.我们的研究问题是，使用多层次的实施战略包，旨在 满足患者、临床医生和医疗保健系统的特定需求，改善诊断， 激活FH患者的护理管理。我们的具体目标是：1）设计临床试验， 评估在综合卫生系统中改善FH诊断的多层次实施策略，2） 比较接受实施策略包的初级保健临床医生的FH诊断率 与那些没有的人相比，3）衡量有组织的FH诊断计划的实施成功，以及 4)探讨与FH诊断程序相关的患者相关服务和健康结果。

PROJECT SUMMARY Familial hypercholesterolemia (FH) is a common genetic disorder (prevalence 1 in 250) that requires lifelong sustained medical care. Evidence-based guidelines for screening and treatment for FH exist. These include universal screening of children ages 9-11, of adolescents ages 18-20, and of adults ages 40 and above; approved diagnostic tools including lipid panels and genetic testing; and recommendations for initiation of lipid lowering medication. FH diagnosis is currently made too late in life, often after a premature heart attack has occurred creating a care gap that results in excess cardiovascular morbidity and mortality. Diagnosing FH in the primary care setting would optimize treatment for individuals with FH and close this care gap. Utilizing tools from implementation science and human centered design, and by considering uptake, acceptability, and sustainability of programs related to FH care should improve earlier diagnosis. Implementation strategies that include insights from patients, clinicians, and healthcare systems are necessary. Our long-term goal is to create an effective FH diagnosis program that is practical and sustainable in the real-world setting. The main objective of this project is to determine the uptake of an FH diagnosis program integrated into primary care practices to promote early identification of adult and pediatric patients that is generalizable to other healthcare settings. Our research question is, does using a multi-level implementation strategy package, designed to address the specific needs of patients, clinicians, and healthcare systems, improve the diagnosis and activation of care management for individuals with FH. Our specific aims are to: 1) to design a clinical trial to assess multi-level implementation strategies for improving FH diagnosis in an integrated health system, 2) compare FH diagnosis rates among primary care clinicians who receive the implementation strategy package versus those who do not, 3) to measure implementation success of an organized FH diagnosis program, and 4) to explore patient-related service and health outcomes related to an FH diagnosis program.