家族性高胆固醇血症一家系分析

目的高胆固血脂一家系调查。调查一家族性高胆固醇血症（FH）三代共20名成员，其中包括一对孪生兄弟的患病情况。结果提示HF患者共8例。总患病率为40％，男性患病率为54．5％（6／11），女性患病率为22．2％（2／9），符合常染色体显性遗传。结论本例FH的家系特点为：①血清总胆固醇（TC）从儿重期始有增高，且随年龄的增长有增高趋势；②家系中一对单卵双生的孪生同胞均为患病者，其后代亦有TC增高；③先证者41岁起即以典型的卧位型心绞痛起病，冠状动脉造影提示三支冠状动脉多处严重狭窄，似提示FH家系中的冠心病患者发病早且病变严重。

A pedigree analysis of a family with familial hypercholesterolemia

Objective The current studywas designed to investigated the features of a family with familial hpercholesterolemia (FH). MethodsTwenty members of three generations in a family with LH were enrolled in the study. The data collected were from clinical observations and subjected topedigree analysis. Results The proband was a 41 -year old male who suffered from angina decubituswith multi- vessel stenosis of coronary artery onsetting at the age of 41. There tvers were 8 FH individuals inthis family with the total incidence Of 40% 54.5%(6/11) in male and 22.2% (2/9) in female]. Theserum total cholesterol level was elevated in childhoodand tended to be raised with increasing age. In addition, the level of totla cholesterol was found to be elevated both in a monozygote twin brothers and theiroffspring in the family. Conclusion FH appears tobe a hereditary disease of autosomal dominance inheritance and the outcome of FH patients with coronaryheart disease seems to be poor.