β-谷固醇血症临床及超声表现

Clinical and ultrasonographic features of β-sitosterolemia

目的观察不同基因型β-谷固醇血症临床及超声表现。方法回顾性分析37例经基因检测确诊的β-谷固醇血症患者,观察其临床表现、实验室检查结果、心脏及颈动脉超声表现。结果37例中,32例(32/37,86.49%)主因黄色瘤就诊;28例(28/37,75.68%)三磷酸腺苷结合盒转运蛋白G5(ABCG5)基因突变、7例(7/37,18.92%)为三磷酸腺苷结合盒转运蛋白G8(ABCG8)基因突变、2例(2/37,5.41%)ABCG5和ABCG8基因双重杂合突变。全部患者总胆固醇、低密度脂蛋白胆固醇及菜籽固醇均明显升高。主要异常超声心动图表现包括瓣膜反流(16/37,43.24%)、肺动脉瓣狭窄(1/37,2.70%)、主动脉瓣钙化(2/37,5.41%)及主动脉窦管交界处钙化(2/37,5.41%),其中19例存在ABCG5突变(19/21,90.48%)。8例(8/37,21.62%)颈动脉超声显示颈动脉粥样硬化斑块,其中7例(7/8,87.50%)ABCG5突变、3例伴颈动脉内-中膜增厚。结论β-谷固醇血症多表现为黄色瘤、血脂和血植物固醇水平升高;超声可见心脏瓣膜损害及动脉粥样硬化等心血管损伤,尤其在ABCG5突变患者。

Objective To observe the clinical and ultrasonographic features of different genotypesβ-sitosterolemia.Methods Thirty-seven patients withβ-sitosterolemia diagnosed by genetic testing were enrolled,and the clinical manifestations,laboratory results,echocardiographic and carotid ultrasonic findings were observed.Results Among 37 patients,32 cases(32/37,86.49%)sought medical advice mainly for xanthoma,28(28/37,75.68%)with adenosine triphosphate-binding cassette transporter G5(ABCG5)gene mutations,7(7/37,18.92%)with adenosine triphosphate-binding cassette transporter G8(ABCG8)gene mutations and 2 cases(2/37,5.41%)with double heterozygous mutations in ABCG5 and ABCG8 genes.Marked high levels of total cholesterol,low density lipoprotein-cholesterol and campesterol were observed in all 37 cases.The main abnormal echocardiographic findings included valve regurgitation(16/37,43.24%),pulmonary valve stenosis(1/37,2.70%),aortic calcification(2/37,5.41%)and aortic sinus junction calcification(2/37,5.41%)mostly in patients with ABCG5 mutation(19/21,90.48%).Carotid atherosclerotic plaques were noticed in 8 cases(8/37,21.62%),including 7 cases with ABCG5 mutation(7/8,87.50%)and with accompanied carotid intima-media thickening in 3 cases.Conclusion Most patients withβ-sitosterolemia had xanthomas and increased levels of blood lipid and blood phytosterol.Echocardiography could show cardiovascular damages,such as heart valve damage and atherosclerosis inβ-sitosterolemia patients,especially in those with ABCG5 mutation.