Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. May 6, 2021; 9(13): 3079-3089
Published online May 6, 2021. doi: 10.12998/wjcc.v9.i13.3079
Pulmonary arterial hypertension in a patient with hereditary hemorrhagic telangiectasia and family gene analysis: A case report
Jian Wu, Yuan Yuan, Xin Wang, Dong-Ying Shao, Li-Guo Liu, Jian He, Peng Li
Jian Wu, Department of Anesthesiology, Shengjing Hospital of China Medical University, Shenyang 110004, Liaoning Province, China
Yuan Yuan, Department of Emergency Medicine, Shengjing Hospital of China Medical University, Shenyang 110004, Liaoning Province, China
Xin Wang, Department of Ultrasound, Shengjing Hospital of China Medical University, Shenyang 110004, Liaoning Province, China
Dong-Ying Shao, Department of Cardiology, Fushun Second Hospital, Fushun 113001, Liaoning Province, China
Li-Guo Liu, Department of Gastroenterology, Fushun Second Hospital, Fushun 113001, Liaoning Province, China
Jian He, Department of Ultrasound, Fushun Central Hospital, Fushun 113006, Liaoning Province, China
Peng Li, Department of Pulmonary and Critical Care Medicine, Shengjing Hospital of China Medical University, Shenyang 110004, Liaoning Province, China
Author contributions: Yuan Y, Wang X, Shao DY, Liu LG, He J, and Li P participated in the research design and performance; Wu J and Li P contributed to the manuscript writing and revision.
Informed consent statement: Consent was obtained from the patient and her family members for publication of this case and the related data and accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest no report.
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: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Peng Li, MD, PhD, Attending Doctor, Department of Pulmonary and Critical Care Medicine, Shengjing Hospital of China Medical University, No. 36 Sanhao Street, Heping District, Shenyang 110004, Liaoning Province, China. lipengcmu@163.com
Received: December 22, 2020
Peer-review started: December 22, 2020
First decision: January 10, 2021
Revised: January 15, 2021
Accepted: February 26, 2021
Article in press: February 26, 2021
Published online: May 6, 2021
Processing time: 121 Days and 1.7 Hours
Abstract
BACKGROUND

Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant genetic disease. Very few patients suffering from HHT present with associated pulmonary arterial hypertension (PAH), which may result in a poor prognosis. Here, we report a case of HHT with PAH. The patient’s clinical manifestations and treatment as well as genetic analysis of family members are reviewed, in order to raise awareness of this multimorbidity.

CASE SUMMARY

A 45-year-old Chinese woman was admitted to the hospital to address a complaint of intermittent shortness of breath, which had lasted over the past 2 years. She also had a 30-year history of recurrent epistaxis and 5-year history of anemia. She reported that the shortness of breath had aggravated gradually over the 2 years. Physical examination discovered anemia and detected gallop rhythm in the precordium. Chest computerized tomography and cardiac ultrasound demonstrated PAH and hepatic arteriovenous malformation. The formal clinical diagnosis was HHT combined with PAH. The patient was treated with ambrisentan and her condition improved for a time. She died half a year after the diagnosis. Genetic testing revealed the patient and some family members to carry an activin A receptor-like type 1 mutation (c. 1232G>A, p. Arg411Gln); the family was thus identified as an HHT family.

CONCLUSION

We report a novel gene mutation (c. 1232G>A, p. Arg411Gln) in a Chinese HHT patient with PAH.

Keywords: Hereditary hemorrhagic telangiectasia; Pulmonary arterial hypertension; Activin A receptor-like type 1; Activin receptor-like kinase 1; Arteriovenous malformation; Endothelin receptor antagonist; Case report

Core Tip: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant genetic disease, which, when associated with pulmonary arterial hypertension (PAH), may result in poor prognosis. As there are many susceptible gene mutations in PAH, there is no clear genetic evidence for HHT with PAH. This is the first report of the activin A receptor-like type 1 c. 1232G>A, p. Arg411Gln mutation in a Chinese HHT patient with PAH. The patient's condition improved obviously after ambrisentan treatment, rather than bosentan. The patient and familial HHT diagnosis was made after the proband’s admission with severe PAH and heart failure. This overdue diagnosis reflects insufficient awareness for HHT diagnosis.