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Hereditary Hemorrhagic Telangiectasia—A Case Series Experience from a Liver Transplant Center in Romania

Hereditary hemorrhagic telangiectasia (HHT) has significant morbidity due to multiorgan involvement and an unpredictable disease course. We analyzed the data of 14 patients diagnosed with HHT. The case series comprised 14 patients with a median age at presentation of 48 years old (41–74 years). In t...

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Autores principales: Pavel, Christopher, Cabel, Teodor, Dinuță, Dragoș, Zaharia, Alexandru, Dima, Simona Olimpia, Sandru, Vasile, Grasu, Mugur Cristian, Mihaila, Mariana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9776987/
https://www.ncbi.nlm.nih.gov/pubmed/36552966
http://dx.doi.org/10.3390/diagnostics12122959
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author Pavel, Christopher
Cabel, Teodor
Dinuță, Dragoș
Zaharia, Alexandru
Dima, Simona Olimpia
Sandru, Vasile
Grasu, Mugur Cristian
Mihaila, Mariana
author_facet Pavel, Christopher
Cabel, Teodor
Dinuță, Dragoș
Zaharia, Alexandru
Dima, Simona Olimpia
Sandru, Vasile
Grasu, Mugur Cristian
Mihaila, Mariana
author_sort Pavel, Christopher
collection PubMed
description Hereditary hemorrhagic telangiectasia (HHT) has significant morbidity due to multiorgan involvement and an unpredictable disease course. We analyzed the data of 14 patients diagnosed with HHT. The case series comprised 14 patients with a median age at presentation of 48 years old (41–74 years). In twelve patients (85.7%), the diagnosis was confirmed by using the Curacao Criteria. The most common reason for admission was epistaxis, with 9 patients (57%) presenting with nosebleed refractory to prolonged self-tamponade. The biochemical abnormalities identified were elevations in AP and gamma-GT; liver synthetic function was generally normal, even though 21% of patients had clinical or imaging findings for cirrhosis. Nosebleeds were the main reason for admission and significantly impacted quality of life through anemia and frequent hospital admissions. However, the visceral manifestations seemed to be more serious. The hepatic arteriovenous malformations (AVMs) appeared to remain asymptomatic or led to minimal changes for the majority of patients; some cases were associated with liver and biliary tract ischemia, necrosis leading to acute liver failure and even death. Hepatic AVMs can also lead to high-output heart failure due to arterio-venous shunting. The most frequent AVM was hepatic artery to hepatic vein, with secondary hepatic vein dilation and hemodynamic consequences.
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spelling pubmed-97769872022-12-23 Hereditary Hemorrhagic Telangiectasia—A Case Series Experience from a Liver Transplant Center in Romania Pavel, Christopher Cabel, Teodor Dinuță, Dragoș Zaharia, Alexandru Dima, Simona Olimpia Sandru, Vasile Grasu, Mugur Cristian Mihaila, Mariana Diagnostics (Basel) Case Report Hereditary hemorrhagic telangiectasia (HHT) has significant morbidity due to multiorgan involvement and an unpredictable disease course. We analyzed the data of 14 patients diagnosed with HHT. The case series comprised 14 patients with a median age at presentation of 48 years old (41–74 years). In twelve patients (85.7%), the diagnosis was confirmed by using the Curacao Criteria. The most common reason for admission was epistaxis, with 9 patients (57%) presenting with nosebleed refractory to prolonged self-tamponade. The biochemical abnormalities identified were elevations in AP and gamma-GT; liver synthetic function was generally normal, even though 21% of patients had clinical or imaging findings for cirrhosis. Nosebleeds were the main reason for admission and significantly impacted quality of life through anemia and frequent hospital admissions. However, the visceral manifestations seemed to be more serious. The hepatic arteriovenous malformations (AVMs) appeared to remain asymptomatic or led to minimal changes for the majority of patients; some cases were associated with liver and biliary tract ischemia, necrosis leading to acute liver failure and even death. Hepatic AVMs can also lead to high-output heart failure due to arterio-venous shunting. The most frequent AVM was hepatic artery to hepatic vein, with secondary hepatic vein dilation and hemodynamic consequences. MDPI 2022-11-26 /pmc/articles/PMC9776987/ /pubmed/36552966 http://dx.doi.org/10.3390/diagnostics12122959 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Pavel, Christopher
Cabel, Teodor
Dinuță, Dragoș
Zaharia, Alexandru
Dima, Simona Olimpia
Sandru, Vasile
Grasu, Mugur Cristian
Mihaila, Mariana
Hereditary Hemorrhagic Telangiectasia—A Case Series Experience from a Liver Transplant Center in Romania
title Hereditary Hemorrhagic Telangiectasia—A Case Series Experience from a Liver Transplant Center in Romania
title_full Hereditary Hemorrhagic Telangiectasia—A Case Series Experience from a Liver Transplant Center in Romania
title_fullStr Hereditary Hemorrhagic Telangiectasia—A Case Series Experience from a Liver Transplant Center in Romania
title_full_unstemmed Hereditary Hemorrhagic Telangiectasia—A Case Series Experience from a Liver Transplant Center in Romania
title_short Hereditary Hemorrhagic Telangiectasia—A Case Series Experience from a Liver Transplant Center in Romania
title_sort hereditary hemorrhagic telangiectasia—a case series experience from a liver transplant center in romania
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9776987/
https://www.ncbi.nlm.nih.gov/pubmed/36552966
http://dx.doi.org/10.3390/diagnostics12122959
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