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目的 :评估未经治疗的无冠状动脉疾病的家族性高胆固醇血症所有原因的死亡率。设计 :家系死亡率研究。背景 :荷兰的一个大家系 ,其宗亲源自 19世纪一对夫妇。先证者 :家族中所有超过 2 0岁且有 5 0 %可能性携带家族性高胆固醇血症突变基因者。主要结果测定指标 :各种原因的死亡率。结果 :分析自 6 95 0人年的 2 5 0人中共死亡的70人。突变基因携带者的死亡率在 19世纪和 2 0世纪早期并未升高 ,1915年后开始升高 ,1935～196 4年达到高峰 (标准化死亡率比 1 78,95 %可信区间 1 13～ 2 76 ,P =0 0 0 3) ,以后下降。家系的两大分支间死亡率有显著性差异 (相对危险性3 2 6 ,95 %可信区间 1 74～ 6 11;P =0 0 0 1)。结论 :家族性高胆固醇血症患者间的死亡危险性差异显著。这种时间上及家系的不同分支间的巨大差异表明环境因素与基因有强大的相互作用。有必要进一步研究以识别那些极高危并需早期和强力预防措施的家族性高胆固醇血症患者。
PURPOSE: To assess the mortality of all causes of untreated familial hypercholesterolemia without coronary artery disease. Design: Family-based Mortality Study. Background: A large family in the Netherlands, whose clansmen originated from a couple in the 19th century. Probate: all family members over the age of 20 and 50% probability of carrying familial hypercholesterolemia gene mutation. Main Outcome Measures: Mortality for various causes. Results: 70 people died in the CCP from 25 0 people aged 6 95 years. Mortality in carriers of the mutated genes did not increase in the 19th and early 2000s and then increased after 1915 and peaked between 1935 and 1944 (the standardized mortality rate was 78% to 95% confidence interval, 2 76, P = 0 0 0 3), after the decline. There was a significant difference in mortality between the two major branches of the pedigree (relative risk, 326, 95% confidence interval, 1 74 to 6 11; P = 0 0 0 1). Conclusion: There is a significant difference in the risk of death among patients with familial hypercholesterolemia. This huge difference in time and between different branches of the family suggests that environmental factors have a strong interaction with the gene. Further research is needed to identify those patients with familial hypercholesterolemia that are extremely dangerous and require early and aggressive prophylaxis.