A Rare Association: Hereditary Hemorrhagic Telangiectasia with Liver Cirrhosis Causing Portal Hypertension.

IF 0.6 Q4 GASTROENTEROLOGY & HEPATOLOGY Case Reports in Gastrointestinal Medicine Pub Date : 2024-01-17 eCollection Date: 2024-01-01 DOI:10.1155/2024/3574725
Denisse Morales-Tovar, Froylan D Martínez-Sánchez, Alejandro Gabutti-Thomas, Rodolfo Rivera-Martínez, Jacqueline Córdova-Gallardo
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Abstract

Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a vascular disorder of autosomal dominant etiology. The hallmark clinical feature is the presence of recurrent episodes of epistaxis in patients with vascular malformations and a tendency to bleed. We present the case of a 71-year-old woman who presented to the emergency department with upper gastrointestinal bleeding caused by esophageal varices, in conjunction with gastric angiodysplasias. The presence of oronasopharyngeal telangiectasias and hepatomegaly raised suspicion of HHT. The diagnostic workup confirmed the presence of angiodysplasia in the gastric region, portal arteriovenous malformation, and a pulmonary shunt.

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罕见的关联:遗传性出血性远端血管扩张症与肝硬化导致的门静脉高压症。
遗传性出血性毛细血管扩张症(HHT)又称伦杜-奥斯勒-韦伯综合征,是一种常染色体显性遗传的血管疾病。其主要临床特征是患者反复发作鼻衄,伴有血管畸形和出血倾向。本病例是一名 71 岁的妇女,因食管静脉曲张并发胃血管增生症引起上消化道出血而到急诊科就诊。口咽部毛细血管扩张和肝脏肿大使她怀疑自己患有 HHT。诊断检查证实了胃区血管增生、门静脉畸形和肺分流。
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来源期刊
Case Reports in Gastrointestinal Medicine
Case Reports in Gastrointestinal Medicine GASTROENTEROLOGY & HEPATOLOGY-
自引率
0.00%
发文量
33
审稿时长
14 weeks
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