Pipitone S, Grillo R, Giudice G, Centineo G, Sperandeo V
Divisione di Cardiologia, P.O. Casa del Sole USL 60, Palermo.
G Ital Cardiol. 1992 Oct;22(10):1225-32.
Homozygous familial hypercholesterolaemia is characterized by cutaneous xanthoma development from infancy, precocious and accelerated atherosclerosis with clinical signs of ischemic heart disease and frequent involvement of left heart valves resulting in stenosis and/or incompetence. Two cases are described of this condition, both associated with aortic stenosis. In one case mitral incompetence and thromboembolic pulmonary hypertension were also found. The mitral valve is involved in the atherosclerotic process at the level of the cusps. These become thickened and stiff. Aortic stenosis is mainly due to atheromas infiltrating the Valsalva sinuses and the ascending aorta. Pulmonary hypertension, never reported before in this disease, is probably due to concomitant atheromatosis involving the pulmonary artery with secondary fatty embolism.
纯合子家族性高胆固醇血症的特征是从婴儿期就出现皮肤黄色瘤，早发性和加速性动脉粥样硬化，伴有缺血性心脏病的临床症状，且左心瓣膜频繁受累导致狭窄和/或功能不全。本文描述了两例这种疾病，均伴有主动脉狭窄。其中一例还发现有二尖瓣功能不全和血栓栓塞性肺动脉高压。二尖瓣在瓣尖水平参与动脉粥样硬化过程，瓣尖增厚、变硬。主动脉狭窄主要是由于动脉粥样瘤浸润主动脉窦和升主动脉。肺动脉高压在该疾病中此前未见报道，可能是由于累及肺动脉的动脉粥样硬化伴继发性脂肪栓塞所致。
