摘要
目的：了解家族性高胆固醇血症的临床及遗传特征。方法：对家族性高胆固醇血症一家系４５名家族直系成员进行了调查，检查了所有成员血清总胆固醇（ＴＣ）、低密度脂蛋白胆固醇（ＬＤＬ－Ｃ）及甘油三酯（ＴＧ）。结果：发现其中有１２例患家族性高胆固醇血症，患病率为男３２％（８／２５），女２０％（４／２０），总患病率为２６．７％。遗传方式符合常染色体显性遗传。临床特征为：①血清ＴＣ、ＬＤＬ－Ｃ自儿童期即增高，且随年龄的增长有逐渐增高的趋势，ＴＧ正常或稍高；②自３５岁后逐渐出现黄色瘤、运动试验阳性，４０岁后出现脂性角膜弓及心绞痛且逐渐加剧，５０岁后可出现心肌梗死甚至猝死。结论：家族性高胆固醇血症是一种常染色体显性遗传性疾病，血清ＴＣ、ＬＤＬ－Ｃ升高及黄色瘤、脂性角膜弓。
Objective:Tostudytheclinicalandhereditaryfeaturesoffamilialhypercholes-terolemia(FH).Methods:ApedigreewithFH,45first-degreerelativesinfourgenerationswereinvestigated.Serumtotalcholesterol(TC),low-denitylipoproteincholesterol(LDL-C)andtriglyceride(TG)weredeter-mined.Results:12casessufferedfromFHwithatotalincidenceof26.7%[32%(8/25)inmales,20%(4/20)infemales].Itshowedautosomaldominantinheritance.TheclinicalfeatureswerehighlevelsofserumTCandLDL-Cinchildhood,TCandLDL-Cincreasedwithincreasingage,whilethelevelsofserumTGwerenormalorslightlyhigh.Xanthomatosisandpositiveelectrocardiogramexercisetestoc-curredafter35yearsold.Cornealarcusandanginaappearedandaggravatedafter40yearsold.Myocar-dialinfarctionorsuddendeathmightoccurover50yearsold.Conclusion:FHisanautosomaldominanthereditarydisease.TheclinicalfeatureswerehighlevelsofserumTCandLDL-C;xanthomatosis;Cornealarcusandearly\|onsetofcoronaryheartdisease.
出处
《中国循环杂志》
CSCD
1996年第7期398-400,共3页
Chinese Circulation Journal
关键词
高胆固醇血症
家系调查
Familialhypercholesterolemia
Pedigreesurvey(ChineseCirculationJournal,1996,11:398.)
