ArticleOrphanet journal of rare diseases2026
Pulmonary hemorrhage as an early clue: an integrated clinical-imaging-genetic diagnostic insight for vascular Ehlers-Danlos syndrome.
Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
BACKGROUND AND
aimsVascular 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 aimed to comprehensively characterize pulmonary features, particularly pulmonary hemorrhage, in vEDS patients and develop an integrated clinical-imaging-genetic diagnostic strategy to facilitate timely recognition and reduce diagnostic delays.
resultsA single-center retrospective cohort study was conducted at Peking Union Medical College Hospital from 2016 to 2025, enrolling 32 patients with genetically confirmed vEDS. Among 32 patients, 27 (84.4%) exhibited respiratory involvement, which was defined by imaging abnormalities, with pneumothorax (50.0%) and hemoptysis (43.8%) as the most common manifestations. Patients with pulmonary hemorrhage were younger (pulmonary hemorrhage group vs. spontaneous pneumothorax and/or hemothorax group vs. Other group: 19.3 ± 4.95 vs.19.9 ± 7.98 vs. 31.7 ± 10.3, P = 0.002) and had fewer arterial complications (10.0% vs. 27.3% vs. 72.7%, P = 0.008). Chest CT revealed migratory nodules/cavities with halo signs in 40.6% cases who have normal CRP levels, indicating recurrent hemorrhage. Leveraging our summarized clinical experience regarding pulmonary hemorrhage in vEDS, median diagnostic duration shortened significantly (2.07 vs. 0.15 years, P = 0.001), and misdiagnosis rates dropped from 81.8% to 9.52% (P < 0.001), reducing unnecessary invasive procedures like bronchoscopy.
conclusionPulmonary hemorrhage acts as a pivotal early indicator of vEDS, corroborated by its distinctive imaging features. Our integrated clinical experience summarized from cases of pulmonary hemorrhage enhances early detection, reduces iatrogenic risks, and emphasizes the priority of genetic testing. Further multicenter prospective studies are required to validate the generalizability of this experience and optimize outcomes for this high-risk population.
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