遗传性出血性毛细血管扩张症
Hereditary hemorrhagic telangiectasia.
作者信息
Kamath Nagesh, Bhatia Sumit, Singh Harneet, Shetty Anurag, Shetty Shiran
机构信息
Department of Gastroenterology and Hepatology, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
出版信息
N Am J Med Sci. 2015 Mar;7(3):125-8. doi: 10.4103/1947-2714.153928.
BACKGROUND
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder, which affects various internal organs and has a tendency for bleeding. It has a classic triad of mucocutaneous telangiectasias, recurrent hemorrhages and positive familial history of first-degree relative. Epistaxis or gastrointestinal telangiectasia can be fatal in a small number of cases.
CASE REPORT
A 44-year-old woman came with complaints of recurrent episodes of hematemesis and epistaxis. Patient had a family history of similar complaints. Patient underwent esophagogastroduodenoscopy (EGD), which revealed telangiectasia in the stomach. Imaging of the abdomen showed features suggestive of arteriovenous shunting.
CONCLUSION
HHT can remain undiagnosed for a long time, and is rarely being reported in the literature with management needing a multidisciplinary approach with early inputs from a gastroenterologist.
背景
遗传性出血性毛细血管扩张症（HHT）是一种常染色体显性疾病，可影响多个内脏器官并具有出血倾向。它具有黏膜皮肤毛细血管扩张、反复出血以及一级亲属阳性家族史这一典型三联征。鼻出血或胃肠道毛细血管扩张在少数情况下可能致命。
病例报告
一名44岁女性因反复呕血和鼻出血前来就诊。患者有类似症状的家族史。患者接受了食管胃十二指肠镜检查（EGD），结果显示胃部有毛细血管扩张。腹部影像学检查显示有动静脉分流的特征。
结论
HHT可能长时间未被诊断出来，且文献中鲜有报道，其治疗需要多学科方法，早期需有胃肠病学家参与。
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