Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Oct 6, 2023; 11(28): 6831-6840
Published online Oct 6, 2023. doi: 10.12998/wjcc.v11.i28.6831
Multi-organ hereditary hemorrhagic telangiectasia: A case report
Ying-Ling Chen, Hong-Yue Jiang, Dong-Ping Li, Jiang Lin, Yun Chen, Li-Li Xu, Hong Gao
Ying-Ling Chen, Hong-Yue Jiang, Dong-Ping Li, Yun Chen, Li-Li Xu, Hong Gao, Department of Gastroenterology and Hepatology, Zhongshan Hospital, Fudan University, Shanghai 200032, China
Jiang Lin, Department of Radiology, Zhongshan Hospital, Fudan University, Shanghai 200032, China
Jiang Lin, Shanghai Institute of Medical Imaging, Shanghai 200032, China
Author contributions: Chen YL contributed to manuscript writing and experiment performance; Jiang HY performed the majority of the experiments; Li DP, Chen Y, and Xu LL contributed to revision of the manuscript; Lin J interpreted the computed tomography scan results; Gao H recruited the patient and contributed to the supervision of the entire study; and all authors read and approved the final manuscript.
Informed consent statement: Informed written consent was obtained from the patient for the publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016) and revised the manuscript according to the requirements of 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: Hong Gao, MD, Doctor, Department of Gastroenterology and Hepatology, Zhongshan Hospital, Fudan University, No. 180 Fenglin Road, Shanghai 200032, China. gao.hong@zs-hospital.sh.cn
Received: July 11, 2023
Peer-review started: July 11, 2023
First decision: August 4, 2023
Revised: August 21, 2023
Accepted: September 11, 2023
Article in press: September 11, 2023
Published online: October 6, 2023
Processing time: 75 Days and 12.6 Hours
Core Tip

Core Tip: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant hereditary disease characterized by varying degrees of bleeding symptoms. The diagnosis of HHT is difficult when relying on bleeding symptoms, while gene testing is robust and reliable for identifying HHT patients. Here, we report a patient with type 2 HHT who was undiagnosed for HHT for years due to varied symptoms involving multiple organs. We found an ALK1 gene mutation in the patient and her family members. We further verified the pathogenic role of this mutation in inducing vascular malformation by basic research studies.