家庭性高胆固醇血症:从临床怀疑到新的治疗方法
Saeid Mirzai1, Parag Anilkumar Chevli2, Rishi Rikhi3
1Department of Internal Medicine, Cleveland Clinic, Cleveland, OH 44195, USA.
Reviews in cardiovascular medicine
|July 30, 2024
概括
家族性高胆固醇血症 (FH) 是一种常见的遗传疾病,从出生开始就导致高的LDL胆固醇,增加早期心血管疾病 (CVD) 风险. 早期诊断和治疗对于管理FH和预防心血管疾病至关重要.
科学领域:
- 遗传学 是一个遗传学.
- 心脏病学 心脏病学
- 公共卫生 公共卫生
背景情况:
- 家族性高胆固醇血症 (FH) 是全球最常见的单一性疾病.
- 它从出生就导致低密度脂蛋白胆固醇 (LDL-C) 的升高,显著增加过早心血管疾病 (CVD) 的风险.
研究的目的:
- 审查早期诊断FH的重要性.
- 讨论FH可用的治疗选择.
- 强调需要提高对FH的认识和查.
主要方法:
- 文献综述专注于FH诊断和治疗.
- 对FH识别当前挑战的分析.
- 讨论推的查和测试方案.
主要成果:
- 延迟诊断是有效FH管理的主要障碍.
- 建议早期和积极的降低LDL-C的疗法.
- 建议在一级亲属中进行级联脂质和/或遗传检测,这是由于自体主导遗传.
结论:
- 早期FH诊断对于减轻心血管疾病风险至关重要.
- 改善查和意识可以带来更好的患者结果.
- 及时治疗FH可以减少心血管疾病的长期负担.
相关概念视频
Lipid-Lowering Drugs: Statins and Miscellaneous Agents
613
Hyperlipidemia, a medical condition often referred to as high cholesterol, is characterized by abnormally elevated levels of lipids in the bloodstream. When present in excess, these lipids, specifically cholesterol and triglycerides, can lead to serious health complications, often involving cardiovascular diseases. Illnesses like atherosclerosis, heart attacks, and pancreatitis have all been linked to untreated hyperlipidemia. This means controlling and regulating cholesterol and triglyceride...
613
Clinical Trials: Overview
2.9K
Clinical development focuses on how the drug will interact with the human body and encompasses four key phases of clinical trials, each serving a specific purpose in assessing the safety and effectiveness of new drugs. These phases overlap and build upon one another. Phase I involves a small group of healthy volunteers (typically 20-80 individuals) or, in cases where significant toxicity is expected, patients with the targeted disease, such as cancer or AIDS. The volunteers are tested for...
2.9K
Drug Discovery: Overview
7.7K
Drug discovery is a multifaceted process involving extensive screening, testing, and optimization of lead compounds to identify potential new drugs for therapeutic use. It combines several approaches, including screening large numbers of natural products, chemical modification of known active molecules, identification of new drug targets, and rational design based on biological mechanisms and drug-receptor structure. These approaches are carried out in both academic research laboratories and...
7.7K
Preclinical Development: Overview
4.3K
Preclinical development consists of a series of tests that ensure the safety and efficacy of a new therapeutic compound before it is tested in humans. There are four main phases to this process. First, safety pharmacology tests are conducted to ensure the drug does not produce any acutely harmful effects. These tests examine parameters such as bronchoconstriction, cardiac dysrhythmias, blood pressure changes, and ataxia. Next, preliminary toxicological testing is performed to determine the...
4.3K
Cholesterol: Significance and Regulation
524
Although not a source of energy, cholesterol plays a significant role as a foundational structure for bile salts, steroid hormones, and vitamin D, as well as being a crucial component of plasma membranes. Approximately 15% of blood cholesterol is derived from our diet, with the remainder synthesized from acetyl CoA by the liver and intestines. Cholesterol is eliminated from the body through its conversion into bile salts, which are eventually discarded in the feces.
Considering cholesterol and...
Considering cholesterol and...
524
Chronic Pancreatitis II: Collaborative Care
79
The management of chronic pancreatitis is multifaceted, involving a comprehensive approach that includes thorough assessment, diagnostic testing, and a variety of management strategies.
Assessment:
Assessment:
79


