INSERM, UMR 1069, "Nutrition, Croissance et Cancer", Tours, France; Université François Rabelais, Tours, France; Centre Hospitalier Universitaire de Tours, Tours, France.
Centre Hospitalier Universitaire Pitié-Salpêtrière, Paris, France.
Atherosclerosis. 2015 Mar;239(1):158-62. doi: 10.1016/j.atherosclerosis.2015.01.007. Epub 2015 Jan 14.
Homozygous familial hypercholesterolemia (HFH) is a rare genetic disease leading to early onset atherosclerosis, due to high concentrations of LDL-C in the blood. Aortic root atheromas may be complicated by obstruction to left ventricle outflow or coronary stenosis. The aim of this study was to describe the progression of aortic root atheroma in patients requiring lipoprotein apheresis before 16 years of age and to examine the requirement of these patients for aortic surgery.
Clinical reports, lipid profiles and echocardiogram results were obtained retrospectively for patients with HFH from three French hemapheresis centers. Data are presented as group medians.
Twenty patients were included, of which 53% had aortic root atheroma (as assessed by echocardiogram) before starting lipoprotein apheresis. These patients began lipoprotein apheresis later than children without aortic root atheroma (10.3 years old [range 5.6-15.9 years] vs. 5.0 years old [range 4.5-11.6 years], respectively, p < 0.05). After 16.4 years (range 2.2-22.8 years) of lipoprotein apheresis treatment, aortic root atheroma had progressed in 64% of patients. Five patients needed surgery for aortic stenosis, which was associated with a coronary artery by-pass for two of them. There were significantly more operations among patients with an aortic root atheroma at the beginning of lipoprotein apheresis than among patients without preexisting lesions (p < 0.01). One patient died after aorta replacement surgery during this period.
Our results suggest that the initiation of lipoprotein apheresis before the onset of aortic root atheroma should reduce the requirement for aortic surgery.
纯合家族性高胆固醇血症（HFH）是一种罕见的遗传性疾病，由于血液中 LDL-C 浓度高，导致早发性动脉粥样硬化。主动脉根部粥样斑块可能导致左心室流出道阻塞或冠状动脉狭窄。本研究旨在描述 16 岁前接受脂蛋白吸附治疗的 HFH 患者主动脉根部粥样斑块的进展情况，并检查这些患者是否需要主动脉手术。
从三个法国血液净化中心回顾性获取 HFH 患者的临床报告、血脂谱和超声心动图结果。数据以组中位数表示。
共纳入 20 例患者，其中 53%在开始脂蛋白吸附治疗前（通过超声心动图评估）有主动脉根部粥样斑块。这些患者开始脂蛋白吸附治疗的时间晚于无主动脉根部粥样斑块的儿童（10.3 岁[范围 5.6-15.9 岁]与 5.0 岁[范围 4.5-11.6 岁]，p<0.05）。经过 16.4 年（范围 2.2-22.8 年）的脂蛋白吸附治疗后，64%的患者主动脉根部粥样斑块进展。5 例患者因主动脉瓣狭窄需要手术，其中 2 例患者同时行冠状动脉旁路移植术。在开始脂蛋白吸附治疗时就有主动脉根部粥样斑块的患者中，手术明显更多（p<0.01）。在此期间，1 例患者在主动脉置换术后死亡。
我们的结果表明，在主动脉根部粥样斑块出现之前开始脂蛋白吸附治疗，应减少主动脉手术的需求。
