Pulmonary vascular Ehlers-Danlos syndrome with hemoptysis as the main manifestation: CT and histologic findings of lung parenchymal damage.

ABSTRACT:

Background

Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disease caused by mutations in the COL3A1 gene. The disease can cause fatal complications such as rupture of the arteries, uterus, and intestine, as well as pulmonary complications, including spontaneous pneumothorax and hemoptysis. Since hemoptysis in vEDS is rare and often misdiagnosed, this study aims to summarize its clinical features, CT findings and the diagnosis and treatment process, thereby improving clinical understanding.

Methods

Patients with vEDS presenting with hemoptysis treated at the First Affiliated Hospital of Guangzhou Medical University from May 2017 to December 2024 were collected. Inclusion criteria included hemoptysis, chest CT, and COL3A1 gene test results. The cl

SUBMITTER: Lei Y 

PROVIDER: S-EPMC12639752 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature