肝脏遗传性出血性毛细血管扩张症的CT表现特点及漏诊、误诊分析

Clinical and Imaging Features of Hepatic Hereditary Hemorrhagic Telangiectasia

目的探讨肝脏遗传性出血性毛细血管扩张症（HHHT）的临床与CT影像特点,分析漏诊、误诊原因,提高早期诊断水平。方法回顾性分析2005年9月至2017年3月间19例临床证实的HHTT患者（男8例,女11例,年龄27-80岁,平均52岁）的临床与CT影像学资料,由3名高级职称放射诊断医师独立分析读片。结果所有患者出现不同程度的诊断延迟,延迟诊断时间从数月到20年,12例诊断肝灌注异常,2例考虑HHHT,5例诊断血管畸形。15例临床或既往有不同程度腹痛伴恶心、呕吐,16例有间断性鼻出血史,9例有消化道出血史。CT平扫肝脏实质密度未见明显异常。肝脏CT动态增强特征表现为动脉期肝实质染色明显不均,其内弥漫分布点状、结节及小斑片状明显强化灶,伴肝内弥漫性血管异常,包括肝动静脉畸形15例（78.95%）、肝动脉-肝静脉瘘8例（42.11%）、肝动脉-门静脉瘘13例（68.42%）、混合型动静脉瘘6例（31.58%）、门静脉-肝静脉瘘2例（10.53%）、毛细血管扩张14例（73.68%）,16例（84.21%）发现肝总动脉及肝内动脉分支扩张和迂曲,表现为肝总动脉直径〉5 mm,平均直径约7.37 mm（5.1-13.5 mm）。另外,发现肝局灶性病变或短暂性肝低灌注13例（68.42%）,典型表现为动脉期肝实质少量或弥漫性分布的斑片状明显强化灶,边界模糊,静脉期与延迟期呈等密度。发现肝内胆管扩张2例（10.53%）,肝纤维化表现4例（21.05%）,表现为肝形态改变及密度不均匀,5例（26.32%）合并肝大,12例（63.16%）合并脾大。结论肝脏遗传性出血性毛细血管扩张症CT动态增强扫描表现具有特征性,缺乏其相关知识及认识不足是延迟诊断与误诊、漏诊的主要原因。

Objective To explore the clinical and imaging features of hepatic hereditary hemorrhagic telangiectasia（ HHHT）,and analyse the causes of misdiagnosis and diagnostic delay of HHHT,which is aimed to improve the understanding and efficacy of early diagnosis for this disease. Methods Clinical data and imaging findings of 19 clinically confirmed cases（ 8 males and 11 females with the age ranging from 27 to 80 years old） with HHHT from September 2005 to March 2017 were analyzed retrospectively and related literatures were reviewed. All cases underwent multidetector computed tomography（ MDCT） scan,magnetic resonance imaging（ MRI） in 3 cases. The images were reviewed independently by three expert radiologists. Results Seventeen patients receive a definite diagnosis only after nearly from several months to20 years from disease onset,including 12 cases of hepatic perfusion abnormalities,5 cases of vascular malformation and 2 cases HHHT in primary diagnosis,which delays the beginning of proper treatment and causes 3 cases with potentially lifethreatening vascular accidents（ such as acute gastrointestinal hemorrhage）. Fifteen patients had different degrees abdominal pain with nausea,vomiting in clinic,16 cases had discontinuity in nose bleeding and 9 cases had gastrointestinal bleeding. Plain CT scan was negative. Dynamic contrast-enhanced CT manifestations were characterized by diffuse vascular abnormalities,including hepatic arteriovenous malformations（ HAVMs） 15 patients（ 78. 95%）,Arteriovenous shunts 8 cases（ 42. 11%）,arterioportal shunts 13 cases（ 68. 42%）,mixed shunts 6 cases（ 31. 58%）,portovenous shuts 2 cases（ 10. 53%）,telangiectasias in 14 cases（ 73. 68%）. Dilated and tortuous hepatic artery were found in 16/19（ 84. 21%,mean diameter of 7. 37 mm ranged from 5. 1 to 13. 5）. Moreover,13 cases（ 68. 42%） displayed focal liver lesions or transient hepatic attenuation differences（ THADs）. Furthermore,Intrahepatic bile duct expansion in 2/19（ 10. 53%）,hepatic fibrosis manifestations in 4/19（ 21. 05%）,hepatomegaly in 5/19（ 26. 32%）,splenomegaly in 12/19（ 63. 16%）. Conclusion HHHT can be clearly diagnosed by dynamic contrast-enhanced CT scan with certain characteristic findings. Early diagnosis of HHHT is increasingly significant in the clinic to avoid misdiagnosis and diagnostic delay of HHHT mainly due to insufficient disease awareness and lack of relevant knowledge among clinical staff and patients＇ relatives.