Work

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

Year: 2025

Type: article

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 clinical manifestations, CT and pathological data of the patients were collected. RESULTS: The cohort included eight males and one female (mean age 22.22 ± 5.72 years). All patients presented with recurrent hemoptysis and cough. The CT findings included patchy ground-glass opacities, fibrous cords, nodules, and cavities, which were predominantly located in the lower lungs. 5 cases showed diffuse erythrocyte exudation and increased hemosiderin-laden macrophages. Eight cases were initially misdiagnosed as infectious diseases, of which 4 cases were treated with diagnostic anti-tuberculosis therapy. CONCLUSION: This study demonstrates that the clinical and imaging manifestations in vEDS patients presenting with hemoptysis lack specificity and are frequently misdiagnosed as infectious diseases. For young men with repeated hemoptysis and persistent CT abnormalities, especially when anti-infective treatment proves ineffective, vEDS should be considered and early genetic testing should be performed. Early diagnosis is crucial to prevent severe complications. CLINICAL TRIAL NUMBER: Not applicable.

Source: Orphanet Journal of Rare Diseases

DOI: 10.1186/s13023-025-04113-4