Chief Physician, Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev Ringvej 75, DK-2730 Herlev, Denmark.
J Clin Endocrinol Metab. 2012 Nov;97(11):3956-64. doi: 10.1210/jc.2012-1563. Epub 2012 Aug 14.
The diagnosis of familial hypercholesterolemia (FH) can be made using the Dutch Lipid Clinic Network criteria. This employs the personal and family history of premature coronary artery disease and hypercholesterolemia and the presence of a pathogenic mutation in the low-density lipoprotein receptor (LDLR) and apolipoprotein B (APOB) genes.
We employed this tool to investigate the prevalence of FH and the associations between FH and coronary artery disease and cholesterol-lowering medication in the Copenhagen General Population Study.
The study was of an unselected, community-based population comprising 69,016 participants.
FH (definite/probable) was defined as a Dutch Lipid Clinic Network score higher than 5. Coronary artery disease was myocardial infarction or angina pectoris.
The prevalence of FH was 0.73% (one in 137). Of participants with FH, 20% had an LDLR or APOB mutation. The prevalence of coronary artery disease among FH participants was 33%. Only 48% of subjects with FH admitted to taking cholesterol-lowering medication. The odds ratio for coronary artery disease off cholesterol-lowering medication was 13.2 (10.0-17.4) in definite/probable FH compared with non-FH subjects, after adjusting for age, gender, body mass index, hypertension, metabolic syndrome and diabetes, and smoking. The corresponding adjusted odds ratio for coronary artery disease in FH subjects on cholesterol-lowering medication was 10.3 (7.8-13.8).
The prevalence of FH appears to be higher than commonly perceived in a general population of white Danish individuals, with at least half of affected subjects not receiving cholesterol-lowering medication. The very high risk of coronary artery disease irrespective of use of medication reflects the extent of underdiagnosis and undertreatment of FH in the community and primary care.
家族性高胆固醇血症（FH）的诊断可以采用荷兰血脂临床网络标准。该标准采用个人和家族早发冠心病和高胆固醇血症病史，以及低密度脂蛋白受体（LDLR）和载脂蛋白 B（APOB）基因突变的存在。
我们使用该工具调查 FH 在哥本哈根普通人群研究中的患病率，以及 FH 与冠心病和降胆固醇药物之间的相关性。
该研究是一项基于社区的未选择人群研究，共纳入 69016 名参与者。
FH（明确/可能）定义为荷兰血脂临床网络评分大于 5。冠心病定义为心肌梗死或心绞痛。
FH 的患病率为 0.73%（1/137）。FH 患者中，20%存在 LDLR 或 APOB 基因突变。FH 患者的冠心病患病率为 33%。仅 48%的 FH 患者承认服用降胆固醇药物。与非 FH 患者相比，服用降胆固醇药物的 FH 患者冠心病的比值比为 13.2（10.0-17.4），调整年龄、性别、体重指数、高血压、代谢综合征和糖尿病以及吸烟因素后。FH 患者服用降胆固醇药物的冠心病比值比为 10.3（7.8-13.8）。
FH 的患病率似乎高于在丹麦白人一般人群中普遍认为的水平，受影响的患者中至少有一半未接受降胆固醇药物治疗。即使使用药物，冠心病的极高风险也反映了 FH 在社区和初级保健中的诊断不足和治疗不足。
