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杂合子家族性高胆固醇血症患者的多发肌腱黄色瘤:超声和MRI表现

Multiple tendon xanthomas in patient with heterozygous familial hypercholesterolaemia: sonographic and MRI findings.

作者信息

Dagistan Emine, Canan Arzu, Kizildag Betul, Barut Abdullah Yuksel

机构信息

Department of Radiology, Abant Izzet Baysal University, Bolu, Turkey.

出版信息

BMJ Case Rep. 2013 Nov 19;2013:bcr2013200755. doi: 10.1136/bcr-2013-200755.

Abstract

Tendon xanthomas are a component of familial hypercholesterolaemia, which is a hereditary disease and characterised by elevated low-density lipo protein cholesterol plasma levels and premature coronary artery disease. Tendon xanthomas are diagnostic for heterozygous familial hypercholesterolaemia (HFH) and they mostly occur in Achilles tendon. Sonography and MRI are superior to clinical assessment and are useful in detecting tendon xanthomas. In this report, we present ultrasonographic and MRI findings of multiple tendon xanthomas in a case of HFH.

摘要

肌腱黄色瘤是家族性高胆固醇血症的一个组成部分,家族性高胆固醇血症是一种遗传性疾病,其特征是血浆中低密度脂蛋白胆固醇水平升高以及早发性冠状动脉疾病。肌腱黄色瘤是杂合子家族性高胆固醇血症(HFH)的诊断依据,且大多发生于跟腱。超声检查和磁共振成像优于临床评估,有助于检测肌腱黄色瘤。在本报告中,我们呈现了一例HFH患者多发肌腱黄色瘤的超声检查和磁共振成像结果。

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