Pulmonary hemorrhage as an early clue: an integrated clinical-imaging-genetic diagnostic insight for vascular Ehlers-Danlos syndrome

Abstract Background and aims Vascular Ehlers-Danlos syndrome (vEDS) is a rare genetic disorder characterized by connective tissue fragility; however, respiratory manifestations such as pulmonary hemorrhage and spontaneous pneumothorax are frequently overlooked during early diagnosis. This study aime...

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Detalhes bibliográficos

Principais autores:	Yaqi Wang, Huaiya Xie, Lan Song, Kexin Xu, Junping Fan, Ping Wang, Nan Wu, Ting Zhang, Juhong Shi, Kai-Feng Xu, Xinlun Tian, Xue Zhang
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2026-03-01
coleção:	Orphanet Journal of Rare Diseases
Assuntos:	Vascular Ehlers-Danlos syndrome Pulmonary hemorrhage Spontaneous pneumothorax Genetic testing Hemoptysis
Acesso em linha:	https://doi.org/10.1186/s13023-026-04327-0
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