Inherited high cholesterol may be common in people with heart disease

An inherited disorder that causes high cholesterol early in life appears to affect about 25 million people worldwide, 但这在心血管疾病患者中尤为常见, 新的研究表明.

The findings, published Friday in the 美国心脏协会 journal 循环, "make a strong case" for screening programs to identify familial hypercholesterolemia early, 该研究的资深作者Dr. Antonio J. Vallejo-Vaz, a clinical research fellow at the Imperial College London.

The global analysis of dozens of studies that included millions from Europe, the United States and elsewhere revealed 1 in 311 people in the general population have FH.

“这篇论文确实验证了感染艾滋病毒的人数,玛丽·安·香槟说, a clinical nurse specialist and senior scholar at Stanford Healthcare in California, 谁没有参与这项研究. "When I first started working in the field, it was estimated to be 1 in 500."

That number spikes to about 1 in 17 among people with cardiovascular diseases such as heart attack, 研究发现. 这是普通人群的18倍. Yet it's estimated less than 10% of people worldwide with FH have been diagnosed.

这种情况会影响“坏的”低密度脂蛋白胆固醇, 导致斑块在血管中积聚, 随着沙巴足球体育平台的推移而缩小. Research shows people with LDL levels of 100 mg/dL or lower tend to have lower rates of heart disease and stroke, 支持“越低越好”的哲学, 根据 胆固醇的指导方针 from the American College of Cardiology and 美国心脏协会.

当FH得不到治疗时, adults may have LDL levels greater than 190 mg/dL and children above 160 mg/dL. 这会导致心脏问题更早出现. By age 10, children with FH often have aortic lesions and thicker carotid arteries than siblings who didn't inherit the condition. And plaques can be detected in about a quarter of adolescents with FH.

如果不及时治疗，许多FH患者开始经历 angina 或者在30多岁时心脏病发作, and the condition significantly reduces life expectancy in most people. However, 原因尚不清楚, some people with FH don't experience heart problems until later in life, 有些人从未患过心脏病.

Vallejo-Vaz is the coordinator for the European Atherosclerosis Society's Familial Hypercholesterolaemia Studies Collaboration, 调查传播感染的全球登记. He calls the condition a "public health challenge" and said doctors should consider it as a potential cause for cardiovascular disease, 尤其是年轻人. Identifying such cases provides the opportunity to test family members and help prevent the consequences of FH through early detection and treatment, 研究人员说.

"People with heart attacks may be more amenable to conversations about genetic testing,香槟酒说. "However, many people don't like to think about having a genetic disorder either for themselves or because their children may be affected."

此外，FH诊断还提出了许多问题，Champagne说. “我怎么付这个钱呢?? 我的健康保险会包括既存状况吗? 这对我的人寿保险有什么影响? 这将如何影响我要孩子的决定?"

But knowing the diagnosis allows health care providers to treat FH with diet, 运动和药物治疗, 潜在地降低心脏病发作和中风的风险. 除了他汀类药物和其他常见的降胆固醇药物, a class of drugs called PCSK9 inhibitors can lower LDL in people with FH. 通过阻断PCSK9蛋白, the medications free up more receptors on the liver to remove LDL from blood.

Champagne hopes the global study serves as an impetus for a closer look at what's happening in the United States. “美国的诊断和治疗.S. 是一个大问题，”她说. 但改善这种状况可能会产生深远的影响."

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