<International Circulation>: Why is familial hypercholesterolemia different from normal hypercholesterolemia?

　　《国际循环》：为什么家族型高胆固醇血症与单纯高胆固醇血症不同？
Dr. Al-Rassadi: Familial hypercholesterolemia is an autosomal dominant genetic disorder which causes high levels of LDL-C. There are two forms: the heterozygous form and the homozygous form. The heterozygous form is more common and worldwide the prevalence is around 1 in 500. The levels are usually between 200 and 400mg/dl and there is a founder effect which is more common in some populations like French/Canadian and some African and Lebanese populations. The homozygous form is rare (one in one million) and has levels around 400mg/dl. Familial hypercholesterolemia has been associated with lifetime risk for development of cardiovascular disease and mortality. Prior to the era of statin therapy and LDL awareness， the homozygous familial hypercholesterolemia carriers usually died before the age of twenty and the heterozygous usually before the age of forty. After starting statin therapy， today they have a better life expectancy.

　　Al-Rassadi博士: 家族性高胆固醇血症是一种能导致LDL-C水平升高的常染色体显性遗传性疾病。这种疾病有两种类型：杂合子型和纯合子型。杂合子型患者更常见，全世界的患病率大约为1:500。患者的LDL-C水平通常在200 到400 mg/dl之间并且在一些人群如法国/加拿大及非洲和黎巴嫩人群中存在奠基者效应。纯合子型患者很少见（每1百万中有1个），血LDL-C水平在400 mg/dl左右。家族性高胆固醇血症与发生心血管疾病和死亡率的终生风险相关。在他汀类药物治疗时代和对LDL的重视出现之前，纯合子型家族性高胆固醇患者携带者常常在20岁之前死亡而杂合子型患者常常在40岁之前死亡。在开始使用他汀类药物治疗后，他们现在的预期寿命要长很多。

<International Circulation>: When do we usually start screening?

　　《国际循环》：我们通常在什么时候开始家族性高胆固醇患者的筛查？
Dr. Al-Rassadi: It depends. In children with a family history of cardiovascular disease with a high level of cholesterol or those who are diagnosed with familial hypercholesterolemia， we would start at the age of two years. We look at their lipid levels and if their LDL or total cholesterol is high then we can confirm the diagnosis with DNA analysis. If they are homozygous then we start therapy early， even before the age of eight. But in the heterozygous form， we usually defer to the age of ten years to start treatment.

　　Al-Rassadi博士: 这要看是什么情况。胆固醇水平高且有心血管疾病家族史的儿童或那些被诊断为家族性高胆固醇血症的儿童，应该从2岁时开始筛查。我们检测这些患者的血脂水平，如果LDL或总胆固醇高那么我们就能通过DNA检查确定诊断。如果是纯合子患者，我们就更早开始治疗，甚至在8岁之前开始治疗。但是对于杂合型患者，我们通常把治疗推迟到10岁。

<International Circulation>: And the treatment is the same as for a standard hypercholesterolemia patient?

　　《国际循环》：那么家族性高胆固醇血症患者的治疗与普通高胆固醇患者的治疗相同是吗？

Dr. Al-Rassadi: The first-line treatment is statin and in adults we start with a maximum dose of statin whilst in children we start with the lowest dose but we can increase that after puberty.

　　 Al-Rassadi博士: 一线药物是他汀类药物，我们给成人的起始剂量为最大剂量然而在儿童中用最低的剂量，在青春期后会继续增加药物剂量。