纯合子家族性高胆固醇血症病理学改变及其生化基础

尸检１例罕见的纯合子家族性高胆固醇血症（ＦＨ）患者，其主要病理变化是冠状动脉左前降支高度狭窄；左心室扩张、肥厚；主动脉瓣、二尖瓣缩短增厚变硬、心尖部和室间隔均见梗死灶及疤痕；肾；脾和肝脏也有不同程度的损害；多处关节处皮肤有多发性黄色瘤。这些病变与生化指标的改变相吻合。

Pathological changes of homozygous familial hypercholesterolemia and its biochemical foundation

A child with homozygous familial hypercholesterolemia was anatomized. The autopsy date showed:(1)many different diameter xanthomas were discovered on the skin;(2)the aoric root,aoric valves and the biscuspid valves became shortening, thickening and hardening; the 4 degree stenosis occurred in the left anterior descending coronary artery. The anterior wall and the interventricular septum of the heart appeared infarcted;(3)arterioles of kidney and spleen represented thicker;(4)there were cell fatty degeneration and coagulation necrosis in the liver. The above changes tallies with the changes of the boy's serum TC,LDL-c,HDL-c concentration and of myocardial enzymes.