Wray R, Neil H, Rees J
Conquest Hospital, St Leonards-on-Sea, Sussex.
J R Coll Physicians Lond. 1996 Mar-Apr;30(2):115-8.
Children with familial hypercholesterolaemia are at high risk of developing coronary artery disease in early adulthood. The diagnosis should therefore be made in childhood. Population screening identifies a small number of children with major genetically determined disorders of lipid metabolism and a large number with polygenic hypercholesterolaemia of uncertain prognostic significance. Selective screening based on a family history of familial hypercholesterolaemia or premature coronary artery disease is an appropriate strategy for identifying most children with familial hypercholesterolaemia. A non-fasting total cholesterol measurement is a suitable screening test: if the concentration exceeds 5.5 mmol/l, a fasting measurement of total cholesterol, high-density lipoprotein cholesterol and triglyceride is required. The diagnosis in a child under 16 years should be based on finding a total cholesterol concentration greater than 6.7 mmol/l and a low-density lipoprotein cholesterol concentration above 4.0 mmol/l on at least two measurements taken more than one month apart. Children should not usually be screened before the age of two years, but the aim should be to diagnose heterozygous familial hypercholesterolaemia before the age of 10 years. Affected children should be referred for specialist care.
患有家族性高胆固醇血症的儿童在成年早期患冠状动脉疾病的风险很高。因此，诊断应在儿童期进行。人群筛查可识别出少数患有主要由基因决定的脂质代谢紊乱的儿童，以及大量患有预后意义不确定的多基因高胆固醇血症的儿童。基于家族性高胆固醇血症或早发性冠状动脉疾病家族史的选择性筛查是识别大多数家族性高胆固醇血症儿童的合适策略。非空腹总胆固醇测量是一种合适的筛查试验：如果浓度超过5.5 mmol/l，则需要空腹测量总胆固醇、高密度脂蛋白胆固醇和甘油三酯。16岁以下儿童的诊断应基于至少两次间隔一个多月测量的总胆固醇浓度大于6.7 mmol/l和低密度脂蛋白胆固醇浓度高于4.0 mmol/l。儿童通常不应在两岁之前进行筛查，但目标应是在10岁之前诊断出杂合子家族性高胆固醇血症。受影响的儿童应转诊接受专科护理。
