遗传性出血性毛细血管扩张症。

Ya-Fen Peng, Liang-Kung Chen, Yi-Hong Chou, Feng-Chi Chang, Shinn-Jang Hwang
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摘要

遗传性出血性毛细血管扩张症(HHT),也称为奥斯勒-韦伯-伦度病,是一种罕见的以内脏器官动静脉通讯为特征的疾病。HHT的诊断包括复发性鼻出血、皮肤粘膜毛细血管扩张、内脏血管病变和家族性发生。这三个标准均可明确诊断HHT。据报道,HHT累及肝脏的患病率从8%到31%不等。在此,我们报告一位75岁的男性,他被诊断为HHT并累及肝脏,基于复发性鼻出血,下唇粘膜毛细血管扩张和肝动静脉畸形的发现。本文讨论了该患者的临床表现,并复习了相关文献。
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Hereditary hemorrhagic telangiectasia.

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, is a rare disorder characterized by arteriovenous communications in visceral organs. The diagnosis of HHT consists of recurrent epistaxis, mucocutaneous telangiectasis, visceral vascular lesion and familial occurrence. HHT can be definitely diagnosed with the presence of all these three criteria. The prevalence of liver involvement of HHT was reported to range from 8 to 31%. Herein, we present a 75-year-old male who was diagnosed as having HHT with liver involvement, based on the findings of recurrent epistaxis, mucosal telangiectasis on the lower lip and hepatic arteriovenous malformation. The clinical presentations of this patient are discussed, and the literature is reviewed.

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