BMJ. 1991 Oct 12;303(6807):893-6. doi: 10.1136/bmj.303.6807.893.
(a) To determine the excess mortality from all causes and from coronary heart disease in patients with familial hypercholesterolaemia; (b) to examine how useful various criteria for selective measurement of cholesterol concentration in cardiovascular screening programmes are in identifying these patients.
Prospective cohort study.
Eleven hospital outpatient lipid clinics in the United Kingdom.
282 men and 244 women aged 20-74 with heterozygous familial hypercholesterolaemia.
Standardised mortality ratio, all adults in England and Wales being taken as standard (standardised mortality ratio = 100 for standard population).
The cohort was followed up for 2234 person years during 1980-9. Fifteen of the 24 deaths were due to coronary heart disease, giving a standardised mortality ratio of 386 (95% confidence interval 210 to 639). The excess mortality from this cause was highest at age 20-39 (standardised mortality ratio 9686; 3670 to 21,800) and decreased significantly with age. The standardised mortality ratio for all causes was 183 (117 to 273) and also was highest at age 20-39 (standardised mortality ratio 902; 329 to 1950). There was no significant difference between men and women. Criteria for measurement of cholesterol concentration in cardiovascular screening programmes (family history, presence of myocardial infarction, angina, stroke, corneal arcus, xanthelasma, obesity, hypertension, diabetes, or any of these) were present in 78% of patients.
Familial hypercholesterolaemia is associated with a substantial excess mortality from coronary heart disease in young adults but may not be associated with a substantial excess mortality in older patients. Criteria for selective measurement of cholesterol concentration in cardiovascular screening programmes identify about three quarters of patients with the clinically overt condition.
(a) 确定家族性高胆固醇血症患者各种原因及冠心病所致的超额死亡率；(b) 研究心血管筛查项目中用于选择性测量胆固醇浓度的各种标准在识别这些患者方面的有用程度。
前瞻性队列研究。
英国的11家医院门诊脂质诊所。
282名男性和244名女性，年龄在20 - 74岁，患有杂合子家族性高胆固醇血症。
标准化死亡率，以英格兰和威尔士的所有成年人作为标准（标准人群的标准化死亡率 = 100）。
该队列在1980 - 1989年期间接受了2234人年的随访。24例死亡中有15例死于冠心病，标准化死亡率为386（95%置信区间210至639）。该病因导致的超额死亡率在20 - 39岁时最高（标准化死亡率9686；3670至21800），并随年龄显著下降。所有原因的标准化死亡率为183（117至273），同样在20 - 39岁时最高（标准化死亡率902；329至1950）。男性和女性之间无显著差异。心血管筛查项目中测量胆固醇浓度的标准（家族史、心肌梗死、心绞痛、中风、角膜弓、睑黄瘤、肥胖、高血压、糖尿病或上述任何一项）在78%的患者中存在。
家族性高胆固醇血症与年轻成年人冠心病所致的大量超额死亡率相关，但在老年患者中可能与大量超额死亡率无关。心血管筛查项目中选择性测量胆固醇浓度的标准可识别约四分之三临床症状明显的患者。
