用于识别和管理家族性高胆固醇血症患者的替代级联测试协议:系统性审查,定性研究和成本效益分析
Nadeem Qureshi1, Bethan Woods2, Rita Neves de Faria2
1PRISM Research Group, Centre for Academic Primary Care, School of Medicine, University of Nottingham, Nottingham, UK.
Health technology assessment (Winchester, England)
|November 4, 2023
概括
对家族性高胆固醇血症 (FH) 的连续测试是有效的. 结合直接和间接的方法可以识别更多的亲属,而直接接触可以提高FH的测试完成率.
科学领域:
- 心血管医学 心血管医学
- 遗传学 是一个遗传学.
- 公共卫生 公共卫生
背景情况:
- 家族性高胆固醇血症 (FH) 是一种遗传性疾病,需要有效识别受影响的亲属.
- 级联测试是FH检测的关键策略,但最佳协议仍然不清楚.
研究的目的:
- 为了确定与不同FH级联测试协议相关的产量,治疗模式和结果.
- 评估各种FH级联测试方法的成本效益.
- 在患者,家庭和医疗保健提供者中评估不同级联测试协议的可接受性.
主要方法:
- 对FH级联测试协议的现有研究进行系统审查.
- 分析了三个大型数据集:PASS,CPRD-HES链接数据,以及一个专门的FH注册表.
- 成本效益建模和与利益相关方进行定性访谈.
主要成果:
- 结合直接和间接的方法,测试的亲属率略高 (40%),而单独的直接 (33%) 或间接 (34%) 则略高.
- 直接接触增加了亲属完成级联测试的可能性 (p < 0.01).
- 在确定的FH患者中观察到显著的心血管疾病风险和发病率,70%的患者没有达到治疗目标水平.
结论:
- 具有成本效益的FH级联测试涉及遗传确认的索引病例,与一级和二级亲属的直接接触以及同时测试.
- 结合的方法可以提高家庭内部的接受度.
- 需要进一步的研究来建立长期队列,并通过随机试验比较接触策略.
相关概念视频
Atherosclerosis III: Management
11
Management of atherosclerosis involves an integrated strategy encompassing pharmacological treatment, surgical interventions, lifestyle changes, and nutrition therapy to address the multifactorial nature of the disease.Pharmacological TherapyA cornerstone of atherosclerosis management is the use of pharmacological agents. Statins, such as atorvastatin, are pivotal in inhibiting HMG-CoA reductase, an enzyme that catalyzes an initial step in cholesterol synthesis in the liver. This reduction in...
11
Types of Biopharmaceutical Studies: Controlled and Non-Controlled Approaches
133
Biopharmaceutical studies constitute a vital field aiming to enhance drug delivery methods and refine therapeutic approaches, drawing upon diverse interdisciplinary knowledge. In research methodologies, the choice between controlled and non-controlled studies significantly influences the study's reliability and accuracy.
Non-controlled studies, commonly employed for initial exploration, lack a control group, rendering them susceptible to biases and external influences. In contrast,...
Non-controlled studies, commonly employed for initial exploration, lack a control group, rendering them susceptible to biases and external influences. In contrast,...
133
Imaging Studies for Cardiovascular System VI: Calcium -Scoring CT
18
Calcium-Scoring CT ScanA calcium-scoring CT scan, also known as coronary artery calcium (CAC) scan, detects calcium deposits in the coronary arteries. This test assesses the risk of coronary artery disease (CAD), which can lead to cardiovascular events such as angina, heart failure, and sudden cardiac arrest.A calcium-scoring CT scan is generally recommended for individuals at intermediate risk of CAD without symptoms. It includes:Men aged 40-75 and women aged 50-75: Especially those with a...
18
Coronary Artery Disease V: Interprofessional Care
9
Interprofessional care for coronary artery disease includes pharmacological therapy and revascularization procedures.Pharmacological therapy for Coronary Artery Disease (CAD) aims to manage symptoms, prevent complications, and improve patient outcomes through various classes of medications:Antiplatelet Agents:Aspirin and Clopidogrel: These medications inhibit platelet aggregation, preventing blood clots, which is crucial for avoiding heart attacks and strokes. Doctors often prescribe these...
9
Hazard Ratio
136
The hazard ratio (HR) is a widely used measure in clinical trials to compare the risk of events, such as death or disease recurrence, between two groups over time. It reflects the ratio of hazard rates—the instantaneous risk of the event occurring—between a treatment group and a control group. This measure provides valuable insights into the relative effectiveness of a treatment by assessing how the risk of an event differs between the two groups.
For example, in a clinical trial...
For example, in a clinical trial...
136
Coronary Artery Disease IV: Preventive Measures
23
Effective preventive measures for coronary artery disease (CAD) focus on controlling modifiable risk factors, including cholesterol abnormalities and lifestyle changes.Cholesterol ManagementFirst, the Mediterranean diet and the American Heart Association advocate for maintaining low-density lipoprotein (LDL) cholesterol levels below 100 mg/dL, with a more stringent recommendation of below 70 mg/dL for individuals at high risk. LDL cholesterol, often termed "bad cholesterol," can lead to the...
23


