一例纯合子型家族性高胆固醇血症及其系谱分析

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２１．３ｍｍｏｌ／Ｌ，出笔时即有黄色瘤，之后多处出现黄色瘤，并有角膜环和主动脉瓣狭窄，多次发生我痛。８

A homozygous patient of familial hypercholesterolemia and their pedigree analysis

Objective To report a homozygous patient of familial hypercholesterolaemia (FH) and the results of pedigree analysis. Methods According to the clinical 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 the buttock when the boy was born. Since then more xanthomas at many parts of body and corneal arcus were found. Auscultatory and ultrasonic examinations found aortic stenosis. He experienced several episodes of acute angina pectoris, eventually sudden death happened after bypass operation of coronary artery when he was 10 year old. His serum total cholesterol (TC) is 21.3mmol/L, the boy can be diagnosed as a homozygote of FH. Then 22 members of three generations in this family were investigated. 11 heterozygotes of FH were found accoring to the blood lipids and clinical manifestations. The genetic pattern is confirmed to be an autosomal dominant inheritance trait by pedigree analysis. Conclusion A pedigree of FH was confirmed.