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，从出生起就会导致高胆固醇水平，并在年轻时有极高的心脏病发作风险？在40岁之前，患病风险大约是平时的100倍。在英国，大约有115,000名FH患者，但只有大约15,000人被确认，留下大约100,000名儿童和成年人没有得到诊断，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(儿童-父母筛查)，该策略首次有可能系统地识别和治疗人口中几乎所有的FH病例。2007年发表的研究表明，在1至9岁之间进行的胆固醇测试将识别约90%的FH病例，每1000名未受影响的儿童中只有1人被错误归类为阳性。已证明，在1至2岁儿童参加免疫接种时，在单一程序中结合验血和免疫进行筛查是实施这一筛查方法的一种可行和可接受的方法。每个被确认的儿童至少有一个受影响的父母(FH是从父母传给孩子的)，因此筛查儿童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受影响成年人和儿童的手段。现在有必要在实践中测试亲子筛查的准确性和成本效益。如果获得这一奖项，将在3年内资助来自76个英国综合诊所的10,000名儿童的筛查、血液采集和数据分析。结果的直接价值将是对这一筛查方法进行正式的科学评估，并对筛查所需的测量进行量化评估。较长期的目标是提供一项普遍的筛查政策，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.