Hereditary hemorrhagic telangiectasia.
Hereditary hemorrhagic telangiectasia.
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DOI：
10.32388/wtlzrr
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发表时间：
2020-02
期刊：
影响因子：
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通讯作者：
Ya-Fen Peng;Liang‐Kung Chen;Y. Chou;F. Chang;Shinn-Jang Hwang
中科院分区：
文献类型：
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作者：
Ya-Fen Peng;Liang‐Kung Chen;Y. Chou;F. Chang;Shinn-Jang Hwang
遗传性出血性毛细血管扩张症（HHT），也被称为奥斯勒-韦伯-伦杜病，是一种罕见的疾病，其特征是内脏器官的动静脉交通。HHT的诊断包括反复鼻出血、皮肤粘膜毛细血管扩张、内脏血管病变和家族性发病。这三个标准的存在可以明确诊断HHT。据报道，HHT肝脏受累的患病率范围为8%至31%。在此，我们提出一位75岁男性，根据反覆性鼻衄、下唇黏膜毛细血管扩张及肝动静脉畸形的发现，诊断为HHT合并肝脏受累。本文讨论此病例之临床表现，并回顾文献。
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.