Hemoptysis caused by hereditary hemorrhagic telangiectasia: A case report and literature review.
10.11817/j.issn.1672-7347.2025.240251
- Author:
Li GAO
1
,
2
;
Yating PENG
1
,
3
;
Ruoyun OUYANG
1
,
4
Author Information
1. Department of Respiratory and Critical Care Medicine, Second Xiangya Hospital, Central South University, Changsha
2. 238211030@csu.edu.cn.
3. pengyating2011@csu.edu.cn.
4. ouyangruoyun@csu.edu.cn.
- Publication Type:Review
- Keywords:
ACVRL1 gene mutation;
anti-angiogenic therapy;
autosomal dominant hereditary disease;
hemoptysis;
hereditary hemorrhagic telangiectasia
- MeSH:
Humans;
Telangiectasia, Hereditary Hemorrhagic/diagnosis*;
Hemoptysis/etiology*;
Male;
Activin Receptors, Type II/genetics*;
Mutation
- From:
Journal of Central South University(Medical Sciences)
2025;50(1):149-154
- CountryChina
- Language:English
-
Abstract:
Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a rare autosomal dominant hereditary disorder characterized by multisystem vascular malformations, including mucocutaneous telangiectasia and arteriovenous malformations. This paper reports a case of a male patient with HHT admitted to the Second Xiangya Hospital of Central South University who presented with hemoptysis, an uncommon manifestation in HHT. Imaging revealed bilateral bronchial artery dilatation and tortuosity, as well as bilateral pulmonary artery enlargement. Whole-exome sequencing for monogenic disorders ultimately identified an ACVRL1 gene mutation, confirming a diagnosis of HHT type 2. Diagnosis of HHT is primarily based on clinical manifestations, imaging findings, and family history, while genetic testing facilitates definitive diagnosis and subtyping. Anti-angiogenic therapy has proven to be an effective and safe treatment approach for controlling hemoptysis, epistaxis, and gastrointestinal bleeding in HHT patients. This case highlights the importance of early genetic screening in suspected cases to enable timely etiological clarification and intervention.
