Taylor C J, Olpin S, Rattenbury J, Whippey A, Lunt C, Beckles-Willson N, Higginbottom J, Pollitt R J, Bonham J, Taitz L S
Department of Paediatrics, University of Sheffield.
J Clin Pathol. 1993 Aug;46(8):730-3. doi: 10.1136/jcp.46.8.730.
To evaluate a more effective method of identifying children with familial hypercholesterolaemia by screening a population at high risk.
Domiciliary measurement of random cholesterol concentration was made in 200 children who were first or second degree relatives of subjects with premature onset coronary artery disease. Measurements were taken by a health visitor using a portable analyser.
Twelve new cases of familial hypercholesterolaemia were identified during the first nine months of the study. Random cholesterol concentrations were within the normal range (< 5.2 mmol/l) in 70.5% of samples tested. Forty two (21%) of patients tested had a borderline cholesterol (5.2-5.9 mmol/l) but 50% of these fell within the normal range when fasting capillary samples were analysed. Children with significant hypercholesterolaemia on random testing (concentrations of > 5.9 mmol/l) (8.5%) also had fasting venous blood assayed for high density lipoprotein (HDL) cholesterol and tri-glyceride in the laboratory. Results indicated that 6.5% of patients screened were at high risk of cardiovascular disease (ratio of total: HDL cholesterol of > 4.5), and 1% had a moderately increased risk (ratio 3.5-4.5).
Children with familial hypercholesterolaemia can be identified from a selected "high risk" population by measuring random capillary cholesterol concentration.
通过对高危人群进行筛查，评估一种更有效的识别家族性高胆固醇血症患儿的方法。
对200名患有早发性冠状动脉疾病患者的一级或二级亲属的儿童进行随机胆固醇浓度的家庭测量。测量由健康访视员使用便携式分析仪进行。
在研究的前九个月中，共识别出12例新的家族性高胆固醇血症病例。所检测样本中70.5%的随机胆固醇浓度在正常范围内（<5.2 mmol/l）。42名（21%）接受检测的患者胆固醇处于临界值（5.2 - 5.9 mmol/l），但在分析空腹毛细血管样本时，其中50%的患者胆固醇浓度落在正常范围内。随机检测时胆固醇显著升高（浓度>5.9 mmol/l）的儿童（8.5%）也在实验室检测了空腹静脉血中的高密度脂蛋白（HDL）胆固醇和甘油三酯。结果表明，6.5%的筛查患者存在心血管疾病的高风险（总胆固醇与HDL胆固醇之比>4.5），1%的患者风险中度增加（比值3.5 - 4.5）。
通过测量随机毛细血管胆固醇浓度，可以从选定的“高危”人群中识别出家族性高胆固醇血症患儿。
