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

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 t...

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Main Authors: Denisse Morales-Tovar, Froylan D. Martínez-Sánchez, Alejandro Gabutti-Thomas, Rodolfo Rivera-Martínez, Jacqueline Córdova-Gallardo
Format: Article
Language:English
Published: Wiley 2024-01-01
Series:Case Reports in Gastrointestinal Medicine
Online Access:http://dx.doi.org/10.1155/2024/3574725
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author Denisse Morales-Tovar
Froylan D. Martínez-Sánchez
Alejandro Gabutti-Thomas
Rodolfo Rivera-Martínez
Jacqueline Córdova-Gallardo
author_facet Denisse Morales-Tovar
Froylan D. Martínez-Sánchez
Alejandro Gabutti-Thomas
Rodolfo Rivera-Martínez
Jacqueline Córdova-Gallardo
author_sort Denisse Morales-Tovar
collection DOAJ
description 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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spelling doaj-art-7156e4acb70b448695ddd124e0c88bec2025-02-03T01:29:45ZengWileyCase Reports in Gastrointestinal Medicine2090-65362024-01-01202410.1155/2024/3574725A Rare Association: Hereditary Hemorrhagic Telangiectasia with Liver Cirrhosis Causing Portal HypertensionDenisse Morales-Tovar0Froylan D. Martínez-Sánchez1Alejandro Gabutti-Thomas2Rodolfo Rivera-Martínez3Jacqueline Córdova-Gallardo4Facultad de MedicinaFacultad de MedicinaDepartment of Interventional RadiologyDepartment of ImageologyFacultad de MedicinaHereditary 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.http://dx.doi.org/10.1155/2024/3574725
spellingShingle Denisse Morales-Tovar
Froylan D. Martínez-Sánchez
Alejandro Gabutti-Thomas
Rodolfo Rivera-Martínez
Jacqueline Córdova-Gallardo
A Rare Association: Hereditary Hemorrhagic Telangiectasia with Liver Cirrhosis Causing Portal Hypertension
Case Reports in Gastrointestinal Medicine
title A Rare Association: Hereditary Hemorrhagic Telangiectasia with Liver Cirrhosis Causing Portal Hypertension
title_full A Rare Association: Hereditary Hemorrhagic Telangiectasia with Liver Cirrhosis Causing Portal Hypertension
title_fullStr A Rare Association: Hereditary Hemorrhagic Telangiectasia with Liver Cirrhosis Causing Portal Hypertension
title_full_unstemmed A Rare Association: Hereditary Hemorrhagic Telangiectasia with Liver Cirrhosis Causing Portal Hypertension
title_short A Rare Association: Hereditary Hemorrhagic Telangiectasia with Liver Cirrhosis Causing Portal Hypertension
title_sort rare association hereditary hemorrhagic telangiectasia with liver cirrhosis causing portal hypertension
url http://dx.doi.org/10.1155/2024/3574725
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