Skovby F, Micic S, Jepsen B, Larsen S O, Hansen B, Tegllund L, Pedersen B N
Department of Pediatrics, University Hospital, Copenhagen, Denmark.
Arch Dis Child. 1991 Jul;66(7):844-7. doi: 10.1136/adc.66.7.844.
A total of 3025 families with schoolchildren aged 6-8 years were offered pilot screening for familial hypercholesterolaemia by measurement of the concentrations of apolipoproteins A-1 and B in the children's capillary blood and by analysis of their family histories of early ischaemic heart disease. The concentrations of the apolipoproteins were determined by double rocket immunoelectrophoresis of an eluate of blood spotted on filter paper. Results were available from 2085 children. Because their B:A-1 ratio was above the 97.5 centile and their concentration of B was above the 99th centile, 54 children (2.6%) were selected to have their apolipoprotein concentrations reassessed. The 17 children (0.8%) whose values were persistently above the chosen cut off points, and all of their available first and second degree relatives, had fasting determinations of serum lipid concentrations carried out. Raised serum concentrations of low density lipoprotein cholesterol and an autosomal dominant pattern of hypercholesterolaemia were found in 12 children and 10 families, respectively, suggesting a higher incidence of familial hypercholesterolaemia than the reported 1:500. Further investigations among family members disclosed hypercholesterolaemia in 29 relatives. A family history of early ischaemic heart disease was elicited by questionnaire, and was positive in only five of the 12 schoolchildren with hypercholesterolaemia. We conclude that analysis of apolipoproteins from capillary blood spotted on filter paper is suitable for screening for familial hypercholesterolaemia, and that this method is more efficient than screening based on family history.
共有3025个有6 - 8岁学龄儿童的家庭接受了家族性高胆固醇血症的试点筛查，通过测量儿童毛细血管血中载脂蛋白A - 1和B的浓度以及分析他们家族的早期缺血性心脏病病史。载脂蛋白的浓度通过对滤纸上血斑洗脱液进行双火箭免疫电泳来测定。2085名儿童得到了结果。由于他们的B:A - 1比值高于第97.5百分位数且B的浓度高于第99百分位数，54名儿童（2.6%）被选来重新评估他们的载脂蛋白浓度。17名儿童（0.8%）的值持续高于选定的临界点，对他们所有可获得的一级和二级亲属进行了空腹血清脂质浓度测定。分别在12名儿童和10个家庭中发现了低密度脂蛋白胆固醇血清浓度升高和高胆固醇血症的常染色体显性模式，这表明家族性高胆固醇血症的发病率高于报道的1:500。对家庭成员的进一步调查发现29名亲属患有高胆固醇血症。通过问卷调查得出早期缺血性心脏病家族史，在12名患有高胆固醇血症的学龄儿童中只有5名呈阳性。我们得出结论，对滤纸上血斑中的载脂蛋白进行分析适用于家族性高胆固醇血症的筛查，并且这种方法比基于家族史的筛查更有效。
