Study of Child-Parent Screening for Familial Hypercholesterolaemia

家族性高胆固醇血症（FH）是一种遗传性疾病，从出生开始就导致血液中胆固醇水平升高，并且在年轻时心脏病发作的风险极高。大约是40岁前的正常风险的一百倍。在英国，大约有11.5万人患有FH，但只有1.5万人被确诊，剩下约10万名儿童和成人未被确诊，也没有救命的降胆固醇治疗。该项目旨在测试一种新的筛查策略（亲子筛查），该策略首次有可能系统地识别和治疗人群中几乎所有的FH病例。2007年发表的一项研究表明，在1岁至9岁之间进行的胆固醇测试可以识别出约90%的FH病例，而每1000名未受影响的儿童中只有约1人被错误地列为阳性。在儿童1至2岁参加免疫接种时，将血液检查和免疫接种结合在一个程序中进行筛查，已被证明是实施这种筛查方法的一种可行和可接受的方法。每个确诊的儿童至少有一个受影响的父母（FH是由父母遗传给孩子的），因此对儿童进行筛查提供了一种在疾病发作之前识别（并因此治疗）有心脏病发作高风险的成人和儿童的手段。现在有必要在实践中检验亲子筛查的准确性和成本效益。该奖项如果获得批准，将资助在3年内对来自英国76家全科诊所的1万名儿童进行筛查、血液收集和数据分析。结果的直接价值将是对这种筛选方法进行正式的科学评价和对筛选所需的测量进行定量评估。长期目标是提供一项普遍筛查政策，能够识别人口中几乎所有患有FH的家庭，并提供开始治疗的机会，每年可防止约800名年轻人死亡。

Familial hypercholesterolaemia (FH) is an inherited condition that causes high blood cholesterol levels from birth and an extremely high risk of heart attack at a young age ? about one hundred times the usual risk before age 40. There are about 115,000 people with FH in the UK, but only about 15,000 have been identified, leaving about 100,000 children and adults undiagnosed and without life-saving cholesterol lowering treatment. This project aims to test a new screening strategy (child-parent screening), which for the first time, has the potential to systematically identify and treat nearly all cases of FH in the population.Research published in 2007 showed that a cholesterol test undertaken between the age of 1 and 9 would identify about 90% of all FH cases, with only about 1 per 1000 unaffected children falsely classified as positive. Screening children when they attend for immunization at 1 to 2 years of age by combining a blood test and immunization in a single procedure has been shown to be a feasible and acceptable method of implementing this screening method. Each identified child has at least one affected parent (FH is inherited from parent to child) so screening children provides a means of identifying (and consequently treating) affected adults and children who have a high risk of a heart attack, before the onset of disease. There is now a need to test the accuracy and cost-effectiveness of child-parent screening in practice.This award, if granted, would fund the screening, blood collection and data analysis in 10,000 children from 76 UK General Practices over a 3 year period. The immediate value of the results would be the formal scientific evaluation of this screening approach and the quantitative assessment of the measurements needed in screening. The longer term goal is the provision of a universal screening policy capable of identifying nearly all families with FH in the population and providing the opportunity to start treatment that could prevent about 800 deaths in young people each year.