什么是家族性高胆固醇血症?

阅读这篇西班牙语文章: 你熟悉高胆固醇血症吗? (PDF)

胆固醇遗传问题

Familial hypercholesterolemia (FH) is an inherited defect in how 身体 recycles 低密度脂蛋白也就是“坏”胆固醇.

患有FH的人天生具有高低密度脂蛋白胆固醇. 每个人的胆固醇水平都会随着年龄的增长而上升. But those with FH have 低密度脂蛋白 levels that start high and get higher over time.

高低密度脂蛋白会导致 斑块 buildup, leading to a much higher-than-normal risk of 冠心病. If left untreated, people with FH have 20 times the risk of developing heart disease.

FH的成因

Familial hypercholesterolemia is commonly caused by a mutation in the gene for the 低密度脂蛋白 cholesterol receptor, which is involved in passing 低密度脂蛋白 from the blood into cells for use by, 或者从, 身体. Mutations in other genes also can cause inherited high cholesterol. Those genes include the PCSK9 gene and the gene for Apolipoprotein B. If you inherit a specific type of mutation in any of these three genes, you can develop FH.

FH有多普遍?

每200个成年人中就有一个人有FH基因突变. 包括儿童在内，FH影响约1.美国有300万人.S. 但只有大约10%的人意识到自己患有糖尿病. The good news: FH is treatable with medications and lifestyle changes.

FH的类型

FH有两种类型:

• 杂合子FH (HeFH). This is the more common type and is inherited from one parent. 在严重情况下, 低密度脂蛋白 cholesterol levels can reach above 190 milligrams per deciliter (mg/dL) of blood. If left untreated, people with HeFH may develop heart disease as early as 30 years old.
• 纯合子FH (HoFH). This is a rare form and is inherited from both parents. 低密度脂蛋白 cholesterol levels can reach above 400 mg/dL of blood. 如果不及早发现和治疗, people with HoFH may develop heart disease in the first 10 years of life, 有时早在两三岁的时候. 了解更多关于 HoFH.

诊断FH

Both types of FH can be diagnosed with a physical exam and lab results, 还有个人和家族病史. They also can be discovered through molecular diagnosis, genetic diagnosis or genetic testing. It’s helpful when genetic testing reveals FH because it can alert relatives to their risk.

有些FH患者有身体症状. 许多不.

One symptom is cholesterol deposits in the Achilles tendons or the tendons of the hands or elbows. People with HoFH also can develop cholesterol deposits in other areas, such as the skin surrounding the eyes or on the outer edge of the cornea.

如果一个家庭中有一人患有FH, 然后是所有的直系亲属——父母, 兄弟姐妹, 孩子们——应该检查一下. 类似的, 如果家里有人有早期心脏病发作, it’s a good idea for other family members to get tested.

Children with increased risk for FH should be screened beginning at age 2. All children should have their cholesterol checked between ages 9 and 11 and again between ages 17 and 21.

What is cascade screening, and why is it important for identifying genetic conditions?

Cascade screening is a method used to identify individuals within a family who may be at risk of inheriting specific genetic conditions. It involves screening close relatives of a person diagnosed with a specific genetic condition to determine if they also have the same genetic mutation.

In the case of familial hypercholesterolemia and elevated Lp(a), early intervention can help manage 低密度脂蛋白 cholesterol levels and reduce the risk of cardiovascular disease.

了解更多关于 跳频的级联筛选(PDF) | 西班牙语(PDF)

治疗FH

FH仍未得到充分诊断和治疗. But people with FH have an excellent prognosis if the condition is identified early and treated. People with HoFH, or suspected HoFH, should start treatment as soon as possible. If not treated early, HoFH can lead to deadly cardiovascular complications in childhood.

Familial hypercholesterolemia cannot be treated by diet and exercise alone. 这些生活方式的改变会有所帮助, but medications are recommended to reduce 低密度脂蛋白 cholesterol levels by at least 50%.

治疗通常包括 他汀类药物 drug, and other cholesterol-lowering medications, such as ezetimibe, also may be required. 低密度脂蛋白胆固醇极高的人, 比如HoFH, 可能需要一种叫做低密度脂蛋白分离的治疗. This is a dialysis-like procedure that’s done every few weeks to remove cholesterol from the blood.

Another class of lipid-lowering medications called bile acid sequestrants, 其中包括胆胺和胆素, 也可以用. These drugs reduce the amount of cholesterol absorbed by the intestines. This, in turn, lowers the amount of cholesterol that gets into the bloodstream.

Injectable medications, known as PCSK9 inhibitors, also can lower cholesterol levels. 这些药物靶向并阻断PCSK9蛋白, which frees up more receptors on liver cells to remove 低密度脂蛋白 cholesterol from the blood.

如果你被诊断患有FH, talk to your health care professional about the right treatment plan for you. Also talk to your family members about FH so they can get screened and treated.