Leonard J V, Fosbrooke A S, Lloyd J K, Wolff O H
Arch Dis Child. 1976 Nov;51(11):842-7. doi: 10.1136/adc.51.11.842.
1510 plasma cholesterol estimations were made in 1391 children admitted to hospital as part of a biochemical profile. Babies under 1 year and children known to have familial hyperlipoproteinaemia were excluded. The mean concentration was 4-28 mmol/l +/- 1-04 (1 SD) (165-3 mg/100 ml +/- 38-6), and levels exceeded 5-93 mmol/l (229 mg/100 ml) in 68 children. Repeat estimations on 55 of these children showed 34 still to have values greater than 5-93 mmol/l and family studies were performed in 19 of these. In 8 children hypercholesterolaemia was secondary and no familial lipoprotein disorder was present. Familial hyper-beta-lipoproteinaemia (FH) was diagnosed in 3 children and in 2 of the families there was a history of early ischaemic heart disease. In 2 children the diagnosis was in doubt. In the remaining 6 children FH and secondary hyperlipoproteinaemia were excluded so the hypercholesterolaemia was presumably environmentally induced, possibly in association with polygenic inheritance. In the present state of knowledge screening of the childhood population for FH by means of plasma cholesterol determinations cannot be recommended. Studies of lipoproteins should, however, be made in children from families known to have FH or early coronary heart disease.
作为生化检查的一部分，对1391名住院儿童进行了1510次血浆胆固醇测定。排除了1岁以下的婴儿以及已知患有家族性高脂蛋白血症的儿童。平均浓度为4.28 mmol/l±1.04（1个标准差）（165.3 mg/100 ml±38.6），68名儿童的水平超过5.93 mmol/l（229 mg/100 ml）。对其中55名儿童进行的重复测定显示，34名儿童的值仍大于5.93 mmol/l，并对其中19名儿童进行了家族研究。8名儿童的高胆固醇血症是继发性的，不存在家族性脂蛋白紊乱。3名儿童被诊断为家族性高β脂蛋白血症（FH），其中2个家庭有早发性缺血性心脏病病史。2名儿童的诊断存在疑问。在其余6名儿童中，排除了FH和继发性高脂蛋白血症，因此高胆固醇血症可能是由环境因素引起的，可能与多基因遗传有关。就目前的知识水平而言，不建议通过血浆胆固醇测定对儿童群体进行FH筛查。然而，应该对已知有FH或早发性冠心病家族史的儿童进行脂蛋白研究。
