摘 要：目的 报道1例纯合子型家族性高胆固醇血症及其系谱分析结果。方法 根据患者及其家系的临床症状和血脂检查资料。结果 先证者男性初诊时为6岁，血清胆固醇浓度为21.3 mmol/L，出生时即有黄色瘤，之后多处出现黄色瘤，并有角膜环和主动脉瓣狭窄，多次发生心绞痛。8岁时首次发生心肌梗死，10岁时在冠脉搭桥术后猝死。可确诊为纯合子型家族性高胆固醇血症。检查患儿3代22人，根据血脂和临床表现确诊11例杂合子型家族性高胆固醇血症患者，系谱分析该家系遗传方式符合常染色体显性遗传规律。结论 证实1个家族性高胆固醇血症系谱。

LIU Jun HU Wei-cheng LIU Yumei et al

    (Department of medicine,The First Hospital ofTianmen City,Hubei 431700)

Abstract：Objective To reporta homozygous patient of familial hypercholesterolaemia (FH) and the results of pedigreeanalysis. Methods According to theclinical signs and serum lipid analysis of the patient and members of their family.Results The proband is a 6-year-old boy. A xanthoma was found at thebuttock when the boy was born. Since then more xanthomas at many parts of body and cornealarcus were found. Auscultatory and ultrasonic examinations found aortic stenosis. Heexperienced several episodes of acute angina pectoris, eventually sudden death happenedafter bypass operation of coronary artery when he was 10-year-old. His serum totalcholesterol (TC) is 21.3 mmol/L, the boy can bediagnosed as a homozygote of FH. Then 22 members of three generations in this family wereinvestigated. 11 heterozygotes of FH were found accoring to the blood lipids and clinicalmanifestations. The genetic pattern is confirmed to be an autosomal dominant inheritancetrait by pedigree analysis. Conclusion A pedigree of FH was confirmed.

     ......