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©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
Hereditary hemorrhagic telangiectasia involving portal venous system: A case report and review of the literature
Jun-Ling Wu, Zhi-Zhuang Zhao, Jun Chen, Han-Wen Zhang, Zhe Luan, Cong-Yong Li, Yi-Ming Zhao, Yu-Jia Jing, Shu-Fang Wang, Gang Sun
Jun-Ling Wu, Jun Chen, Han-Wen Zhang, Zhe Luan, Yu-Jia Jing, Medical School of Chinese PLA, Department of Gastroenterology and Hepatology, The First Medical Center, Chinese PLA General Hospital, Beijing 100853, China
Zhi-Zhuang Zhao, Department of Geriatrics, Hainan Hospital of PLA General Hospital, Sanya 572013, Hainan Province, China
Cong-Yong Li, Department of Sixth Health Care, Second Medical Center of PLA General Hospital, Beijing 100853, China
Yi-Ming Zhao, Department of Gastroenterology and Hepatology, Hainan Hospital of PLA General Hospital, Sanya 572013, Hainan Province, China
Shu-Fang Wang, Gang Sun, Department of Gastroenterology and Hepatology, The First Medical Center, Chinese PLA General Hospital, Beijing 100853, China
Author contributions: Wu JL wrote the initial draft of the manuscript; Sun G and Wang SF provided critical analysis and review of the manuscript; Chen J, Zhang HW, Zhao ZZ, and Luan Z analyzed the patient’s whole genome sequencing data; Zhao YM, Li CY, and Jing YJ collected the clinical data; and all authors read and approved the manuscript.
Supported by the Youth Independent Innovation Science Project of PLA General Hospital, No. 22QNFC058.
Informed consent statement: Written informed consent was obtained from the patient for the publication of this case report and any accompanying images.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:
https://creativecommons.org/Licenses/by-nc/4.0/ Corresponding author: Gang Sun, MD, Doctor, Department of Gastroenterology and Hepatology, The First Medical Center, Chinese PLA General Hospital, No. 28 Fuxing Road, Haidian District, Beijing 100853, China. sunok301@126.com
Received: July 1, 2023
Peer-review started: July 1, 2023
First decision: July 18, 2023
Revised: August 2, 2023
Accepted: August 15, 2023
Article in press: August 15, 2023
Published online: October 27, 2023
Processing time: 118 Days and 5.7 Hours
BACKGROUND
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder with an incidence of approximately 1 in 5000 in the general population. It is characterized by vasodilation, which affects specific organs, such as the skin, mucous membranes, brain, lungs, gastrointestinal tract, liver, and others. However, HHT rarely involves the portal venous system to cause serious clinical complications.
CASE SUMMARY
A 68-year-old woman was admitted to the emergency department due to four consecutive days of abdominal pain and bloody stool and was subsequently diagnosed with HHT. Computed tomography angiography confirmed the presence of an arteriovenous fistula (AVFs). Considering this specific manifestation, whole exome sequencing was performed. After a comprehensive evaluation, a selective superior mesenteric artery embolization was prioritized to avoid intestinal ischemia. The postoperative symptoms of the patient were quickly relieved. Unfortunately, two months post-procedure the patient died from intestinal necrosis and abdominal infection related to remaining AVFs.
CONCLUSION
For patients with diffuse superior mesenteric AVFs, selective mesenteric arterial embolization may lead to positive short-term outcomes.
Core Tip: This case report describes a rare case of hereditary hemorrhagic telangiectasia (HHT) involving the portal system and identified a possible gene mutation site. For patients with diffuse superior mesenteric arteriovenous fistulas (AVFs), a selective mesenteric arterial embolization may lead to positive short-term outcomes. In the future, more studies are needed to determine the suitability of this treatment for patients with diffuse superior mesenteric AVFs (SMAVFs) associated with HHT. Additionally, more studies are required to investigate whether new sites of gene mutations can cause or contribute to the development of diffuse SMAVFs in patients with HHT.
