遗传性出血性毛细血管扩张症的影像学诊断和介入治疗研究进展

遗传性出血性毛细血管扩张症是一种以鼻出血、皮肤黏膜毛细血管扩张、内脏损害和伴有家族史为特征的常染色体显性遗传病。然而许多临床和影像学医师缺乏对本病的认识,仍将本病视为少见病。由于本病的动静脉畸形持续不断的发展所造成的内脏损害需要及时早期做出正确诊断、选择合适的介入治疗技术,并对患者家族成员进行监测和随访,因此,全面了解本病的影像学表现和栓塞治疗是十分必要的。

Hereditary hemorrhagic telangiectasia:Progress of diagnostic imaging and vascular therapeutic embolization

Hereditary haemorrhagic telangiectasia(HHT) is a genetic autosomal-dominant disorder characterized by the presence of epistaxis,vascular telangiectasis in mucosal and cutaneous tissues,with visceral lesions and family history. However,many specialists or radiologists are still in lack of appreciation concerning the full range of consequences in diagnosis and their family relationship resulting the poor recognition of the disease. Understanding the diagnostic imaging and therapeutic measure for HHT will be critical,because of the continuous growth and risk existance of these arteriovenous malformations arousing early diagnosis,proper treatment,adequate follow-up and screening of the family.