A missed case of hereditary hemorrhagic telangiectasia: A case report

doi:10.1177/2050313X221124060

科研成果详情

题名	A missed case of hereditary hemorrhagic telangiectasia: A case report
作者	Zhang, Jia 1,2; Pan, Gaoyun 3; Zou, Yingying 4; Chen, Xiaoshu5; Pan, Jingye6; Wang, Yi 5; Quan, Shichao7; Zou, He5
发表日期	2022
发表期刊	SAGE open medical case reports 影响因子和分区
语种	英语
原始文献类型	Case Reports
关键词	Hereditary hemorrhagic telangiectasia cerebral arteriovenous malformations pulmonary arteriovenous malformations
其他关键词	ARTERIOVENOUS-MALFORMATIONS ; COMPLICATIONS
摘要	Hereditary hemorrhagic telangiectasia is a rare autosomal dominant disorder characterized by abnormal blood vessel formation. When an abnormal vascular architecture affects the lungs and central nervous system, serious complications can occur. We report a missed case of hereditary hemorrhagic telangiectasia with pulmonary arteriovenous malformations and cerebral arteriovenous malformations. A 22-year-old Chinese female was taken to the emergency room because of unconsciousness. Emergency head contrast-enhanced computed tomography and transthoracic contrast echocardiography showed that she had cerebral arteriovenous malformations and pulmonary arteriovenous malformations. The patient experienced multiple spontaneous epistaxis since childhood, for which she was treated at a local hospital for a brief period. Her mother also had pulmonary arteriovenous malformations. The patient was diagnosed with hereditary hemorrhagic telangiectasia according to the consensus Curaçao diagnostic criteria and eventually died of hereditary hemorrhagic telangiectasia. The case report highlights the importance of early diagnosis and intervention for hereditary hemorrhagic telangiectasia. Given that hereditary hemorrhagic telangiectasia is frequently undiagnosed, increasing the physician's awareness of hereditary hemorrhagic telangiectasia can play an important role in the timely diagnosis and treatment of these patients.
资助项目	Science and Technology Plan Project of Wenzhou [Y2020102, Y2020577]
出版者	SAGE PUBLICATIONS INC
ISSN	2050-313X
卷号	10
DOI	10.1177/2050313X221124060
页数	4
WOS类目	Medicine, General & Internal
WOS研究方向	General & Internal Medicine
WOS记录号	WOS:000927960300001
收录类别	PUBMED ; ESCI ; SCOPUS
URL	查看原文
PubMed ID	36530370
SCOPUSEID	2-s2.0-85144158938
通讯作者地址	[Zou, He]Department of Cardiovascular Medicine,Wenzhou People’s Hospital,The Wenzhou Third Clinical Institute Affiliated with Wenzhou Medical University,Wenzhou,China
Scopus学科分类	Medicine (all)
引用统计
文献类型	期刊论文
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/172637
专题	其他_温州市第三临床学院（温州市人民医院）检验医学院（生命科学学院、生物学实验教学中心）附属第一医院_全科医学科
通讯作者	Zou, He
作者单位	1.Department of Inspection Medical,Wenzhou People’s Hospital,The Wenzhou Third Clinical Institute Affiliated,Wenzhou Medical University,Wenzhou,China; 2.School of Laboratory Medicine and Life Sciences,Wenzhou Medical University,Wenzhou,China; 3.Department of Ultrasound,Wenzhou People’s Hospital,The Wenzhou Third Clinical Institute Affiliated with Wenzhou Medical University,Wenzhou,China; 4.Department of Digestive System,The Third Affiliated Hospital of Qiqihar Medical University,Qiqihar,China; 5.Department of Cardiovascular Medicine,Wenzhou People’s Hospital,The Wenzhou Third Clinical Institute Affiliated with Wenzhou Medical University,Wenzhou,China; 6.Department of General and Intensive Care Medicine,The First Affiliated Hospital of Wenzhou Medical University,Wenzhou,China; 7.Department of General Practice,The First Affiliated Hospital of Wenzhou Medical University,Wenzhou,China
第一作者单位	温州医科大学; 检验医学院（生命科学学院、生物学实验教学中心）
通讯作者单位	温州医科大学
第一作者的第一单位	温州医科大学
推荐引用方式 GB/T 7714	Zhang, Jia,Pan, Gaoyun,Zou, Yingying,et al. A missed case of hereditary hemorrhagic telangiectasia: A case report[J]. SAGE open medical case reports,2022,10.
APA	Zhang, Jia., Pan, Gaoyun., Zou, Yingying., Chen, Xiaoshu., Pan, Jingye., ... & Zou, He. (2022). A missed case of hereditary hemorrhagic telangiectasia: A case report. SAGE open medical case reports, 10.
MLA	Zhang, Jia,et al."A missed case of hereditary hemorrhagic telangiectasia: A case report".SAGE open medical case reports 10(2022).