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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Wiley
2024-01-01
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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. |
format | Article |
id | doaj-art-7156e4acb70b448695ddd124e0c88bec |
institution | Kabale University |
issn | 2090-6536 |
language | English |
publishDate | 2024-01-01 |
publisher | Wiley |
record_format | Article |
series | Case Reports in Gastrointestinal Medicine |
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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