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Co-existing Gastrointestinal Hemorrhage and Deep Vein Thrombosis in a Patient with Hereditary Hemorrhagic Telangiectasia: Management Dilemma

Hereditary hemorrhagic telangiectasia (HHT) is described as a vascular defect, causing recurrent visceral and mucocutaneous bleeding. It is an autosomal dominant disease and has variable expressivity. The phenotypic presentation is dependent on the type of gene defect. Recurrent epistaxis is the mos...

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Autores principales: Ijaz, Hasnan M, Lodhi, Muhammad Uzair, Chowdhury, Waliul, Syed, Intekhab Askari, Patel, Chirag, McDaniel, Bryce A., Rahim, Mustafa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6436667/
https://www.ncbi.nlm.nih.gov/pubmed/30949422
http://dx.doi.org/10.7759/cureus.3305
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author Ijaz, Hasnan M
Lodhi, Muhammad Uzair
Chowdhury, Waliul
Syed, Intekhab Askari
Patel, Chirag
McDaniel, Bryce A.
Rahim, Mustafa
author_facet Ijaz, Hasnan M
Lodhi, Muhammad Uzair
Chowdhury, Waliul
Syed, Intekhab Askari
Patel, Chirag
McDaniel, Bryce A.
Rahim, Mustafa
author_sort Ijaz, Hasnan M
collection PubMed
description Hereditary hemorrhagic telangiectasia (HHT) is described as a vascular defect, causing recurrent visceral and mucocutaneous bleeding. It is an autosomal dominant disease and has variable expressivity. The phenotypic presentation is dependent on the type of gene defect. Recurrent epistaxis is the most common symptom, along with gastrointestinal (GI), pulmonary, and arteriovenous malformations (AVM). The Curacao criteria are used to make the diagnosis of HHT. Genetic sequence testing for endoglin (ENG) or activin receptor-like kinase type 1 (ALK1) can be performed to confirm the diagnosis. However, genetic sequencing is not necessary. Along with recurrent bleeding, patients with HHT also have an increased risk of thromboembolic events. Supportive treatment prevents acute symptoms, but the therapeutic options of HHT are based on multiple factors. We describe the case of a 69-year-old male who presented with GI bleeding and a history of HHT and recurrent deep vein thrombosis (DVT). We discuss the diagnostic guidelines and treatment options for patients with HHT. Furthermore, we also discuss the challenge in treating patients with co-existing GI bleeding and DVT, as in our case.
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spelling pubmed-64366672019-04-04 Co-existing Gastrointestinal Hemorrhage and Deep Vein Thrombosis in a Patient with Hereditary Hemorrhagic Telangiectasia: Management Dilemma Ijaz, Hasnan M Lodhi, Muhammad Uzair Chowdhury, Waliul Syed, Intekhab Askari Patel, Chirag McDaniel, Bryce A. Rahim, Mustafa Cureus Internal Medicine Hereditary hemorrhagic telangiectasia (HHT) is described as a vascular defect, causing recurrent visceral and mucocutaneous bleeding. It is an autosomal dominant disease and has variable expressivity. The phenotypic presentation is dependent on the type of gene defect. Recurrent epistaxis is the most common symptom, along with gastrointestinal (GI), pulmonary, and arteriovenous malformations (AVM). The Curacao criteria are used to make the diagnosis of HHT. Genetic sequence testing for endoglin (ENG) or activin receptor-like kinase type 1 (ALK1) can be performed to confirm the diagnosis. However, genetic sequencing is not necessary. Along with recurrent bleeding, patients with HHT also have an increased risk of thromboembolic events. Supportive treatment prevents acute symptoms, but the therapeutic options of HHT are based on multiple factors. We describe the case of a 69-year-old male who presented with GI bleeding and a history of HHT and recurrent deep vein thrombosis (DVT). We discuss the diagnostic guidelines and treatment options for patients with HHT. Furthermore, we also discuss the challenge in treating patients with co-existing GI bleeding and DVT, as in our case. Cureus 2018-09-14 /pmc/articles/PMC6436667/ /pubmed/30949422 http://dx.doi.org/10.7759/cureus.3305 Text en Copyright © 2018, Ijaz et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Internal Medicine
Ijaz, Hasnan M
Lodhi, Muhammad Uzair
Chowdhury, Waliul
Syed, Intekhab Askari
Patel, Chirag
McDaniel, Bryce A.
Rahim, Mustafa
Co-existing Gastrointestinal Hemorrhage and Deep Vein Thrombosis in a Patient with Hereditary Hemorrhagic Telangiectasia: Management Dilemma
title Co-existing Gastrointestinal Hemorrhage and Deep Vein Thrombosis in a Patient with Hereditary Hemorrhagic Telangiectasia: Management Dilemma
title_full Co-existing Gastrointestinal Hemorrhage and Deep Vein Thrombosis in a Patient with Hereditary Hemorrhagic Telangiectasia: Management Dilemma
title_fullStr Co-existing Gastrointestinal Hemorrhage and Deep Vein Thrombosis in a Patient with Hereditary Hemorrhagic Telangiectasia: Management Dilemma
title_full_unstemmed Co-existing Gastrointestinal Hemorrhage and Deep Vein Thrombosis in a Patient with Hereditary Hemorrhagic Telangiectasia: Management Dilemma
title_short Co-existing Gastrointestinal Hemorrhage and Deep Vein Thrombosis in a Patient with Hereditary Hemorrhagic Telangiectasia: Management Dilemma
title_sort co-existing gastrointestinal hemorrhage and deep vein thrombosis in a patient with hereditary hemorrhagic telangiectasia: management dilemma
topic Internal Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6436667/
https://www.ncbi.nlm.nih.gov/pubmed/30949422
http://dx.doi.org/10.7759/cureus.3305
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