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Case Report: Clinical characteristics and genetic analysis of two patients with hereditary hemorrhagic telangiectasia
Objective: To analyze the clinical features and genetic characteristics of two patients with hereditary hemorrhagic telangiectasia (HHT) and to review the relevant literature. Methods: The clinical data of two HHT patients admitted to the author’s hospital between April 2019 and February 2022 were r...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9452660/ https://www.ncbi.nlm.nih.gov/pubmed/36092899 http://dx.doi.org/10.3389/fgene.2022.954796 |
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author | Wang, Qiu-Ying Feng, Yu-Xuan Zhu, Ying-Wei Sun, Yu-Xia Xu, Jing-Duan Shi, Hui-Min Mao, Yi-Min Jiang, Hong-Wei |
author_facet | Wang, Qiu-Ying Feng, Yu-Xuan Zhu, Ying-Wei Sun, Yu-Xia Xu, Jing-Duan Shi, Hui-Min Mao, Yi-Min Jiang, Hong-Wei |
author_sort | Wang, Qiu-Ying |
collection | PubMed |
description | Objective: To analyze the clinical features and genetic characteristics of two patients with hereditary hemorrhagic telangiectasia (HHT) and to review the relevant literature. Methods: The clinical data of two HHT patients admitted to the author’s hospital between April 2019 and February 2022 were retrospectively analyzed. Meanwhile, the genetic analysis was performed with their consent. Results: The first patient was a 62-year-old woman who had been complaining of shortness of breath and fever for 20 days. Her previous medical history included brain abscess drainage and video-assisted thoracoscopic surgery for a pulmonary hemangioma. A right heart catheterization revealed no pulmonary arterial hypertension, and an abdominal enhanced magnetic resonance imaging revealed multiple arteriovenous malformations in the liver. Her ACVRL1 heterozygous variants were discovered through whole-exon gene testing. The second case involved a 47-year-old woman who had been experiencing chest tightness for the past 2 years. Several years ago, she underwent brain abscess drainage and embolization of a pulmonary arteriovenous fistula. Ultrasound revealed generalized hepatic vascular dilation, and enhanced computed tomography revealed numerous pulmonary venous fistulas scattered in both lungs as well as multiple arteriovenous malformations in the liver. Her whole-exon gene testing revealed that she, like her son, had heterozygous ENG variants. Conclusion: HHT patients may experience infection, bleeding, dyspnea, and other symptoms. Imaging is important in disease diagnosis and management because early detection and treatment can prevent major complications and disability or even death. |
format | Online Article Text |
id | pubmed-9452660 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-94526602022-09-09 Case Report: Clinical characteristics and genetic analysis of two patients with hereditary hemorrhagic telangiectasia Wang, Qiu-Ying Feng, Yu-Xuan Zhu, Ying-Wei Sun, Yu-Xia Xu, Jing-Duan Shi, Hui-Min Mao, Yi-Min Jiang, Hong-Wei Front Genet Genetics Objective: To analyze the clinical features and genetic characteristics of two patients with hereditary hemorrhagic telangiectasia (HHT) and to review the relevant literature. Methods: The clinical data of two HHT patients admitted to the author’s hospital between April 2019 and February 2022 were retrospectively analyzed. Meanwhile, the genetic analysis was performed with their consent. Results: The first patient was a 62-year-old woman who had been complaining of shortness of breath and fever for 20 days. Her previous medical history included brain abscess drainage and video-assisted thoracoscopic surgery for a pulmonary hemangioma. A right heart catheterization revealed no pulmonary arterial hypertension, and an abdominal enhanced magnetic resonance imaging revealed multiple arteriovenous malformations in the liver. Her ACVRL1 heterozygous variants were discovered through whole-exon gene testing. The second case involved a 47-year-old woman who had been experiencing chest tightness for the past 2 years. Several years ago, she underwent brain abscess drainage and embolization of a pulmonary arteriovenous fistula. Ultrasound revealed generalized hepatic vascular dilation, and enhanced computed tomography revealed numerous pulmonary venous fistulas scattered in both lungs as well as multiple arteriovenous malformations in the liver. Her whole-exon gene testing revealed that she, like her son, had heterozygous ENG variants. Conclusion: HHT patients may experience infection, bleeding, dyspnea, and other symptoms. Imaging is important in disease diagnosis and management because early detection and treatment can prevent major complications and disability or even death. Frontiers Media S.A. 2022-08-25 /pmc/articles/PMC9452660/ /pubmed/36092899 http://dx.doi.org/10.3389/fgene.2022.954796 Text en Copyright © 2022 Wang, Feng, Zhu, Sun, Xu, Shi, Mao and Jiang. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Genetics Wang, Qiu-Ying Feng, Yu-Xuan Zhu, Ying-Wei Sun, Yu-Xia Xu, Jing-Duan Shi, Hui-Min Mao, Yi-Min Jiang, Hong-Wei Case Report: Clinical characteristics and genetic analysis of two patients with hereditary hemorrhagic telangiectasia |
title | Case Report: Clinical characteristics and genetic analysis of two patients with hereditary hemorrhagic telangiectasia |
title_full | Case Report: Clinical characteristics and genetic analysis of two patients with hereditary hemorrhagic telangiectasia |
title_fullStr | Case Report: Clinical characteristics and genetic analysis of two patients with hereditary hemorrhagic telangiectasia |
title_full_unstemmed | Case Report: Clinical characteristics and genetic analysis of two patients with hereditary hemorrhagic telangiectasia |
title_short | Case Report: Clinical characteristics and genetic analysis of two patients with hereditary hemorrhagic telangiectasia |
title_sort | case report: clinical characteristics and genetic analysis of two patients with hereditary hemorrhagic telangiectasia |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9452660/ https://www.ncbi.nlm.nih.gov/pubmed/36092899 http://dx.doi.org/10.3389/fgene.2022.954796 |
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