Moorjani S, Roy M, Gagné C, Davignon J, Brun D, Toussaint M, Lambert M, Campeau L, Blaichman S, Lupien P
Laval University Hospital Research Centre, Québec City, Canada.
Arteriosclerosis. 1989 Mar-Apr;9(2):211-6. doi: 10.1161/01.atv.9.2.211.
Nineteen patients with homozygous familial hypercholesterolemia (FH) living at the time of the 1981 Canada census are the subject of this report. Their mean age at that time was 15, with a range of 1 to 26 years. All patients had extensive xanthomatosis but showed variable clinical manifestations of coronary heart disease (CHD); five (mean age, 21; range, 11 to 27 years) died from sudden death due to CHD. Plasma cholesterol levels varied more than twofold (557 to 1532 mg/dl). Variation in the concentrations of both plasma and low density lipoprotein cholesterol, as well as apolipoprotein B, were related neither to age at death from CHD nor to the clinical course of CHD. The mean high density lipoprotein cholesterol concentration (37 mg/dl) was lower than the mean value (49 mg/dl) in the control population (p less than 0.001). Both the clinical and biochemical features of this cohort are typical of homozygous FH. The prevalence of homozygotes among French Canadians in Québec was approximately 1:275,000, and the minimum estimated frequency of heterozygotes was 1:270. In northeastern Québec, the frequency of homozygotes was approximately 1:100,000, and the minimum estimated frequency of heterozygotes was 1:154. Only Afrikaaners in South Africa have correspondingly higher frequencies.
本报告的研究对象是1981年加拿大人口普查时在世的19名纯合子家族性高胆固醇血症（FH）患者。他们当时的平均年龄为15岁，年龄范围在1至26岁之间。所有患者均有广泛的黄瘤病，但冠心病（CHD）的临床表现各不相同；5名患者（平均年龄21岁，范围11至27岁）死于CHD导致的猝死。血浆胆固醇水平变化超过两倍（557至1532mg/dl）。血浆和低密度脂蛋白胆固醇以及载脂蛋白B浓度的变化，既与CHD死亡年龄无关，也与CHD的临床病程无关。高密度脂蛋白胆固醇平均浓度（37mg/dl）低于对照组人群的平均值（49mg/dl）（p<0.001）。该队列的临床和生化特征均为纯合子FH的典型表现。魁北克法裔加拿大人中纯合子的患病率约为1:275,000，杂合子的最低估计频率为1:270。在魁北克东北部，纯合子的频率约为1:100,000，杂合子的最低估计频率为1:154。只有南非的阿非利卡人有相应更高的频率。
