Spectrum of Respiratory Involvement in Ehlers–Danlos Syndrome: Insights From a Case Report

Abstract

Vascular Ehlers–Danlos syndrome (vEDS) is a rare connective tissue disorder characterized by type III collagen deficiency and marked vascular fragility, which can lead to atypical thoracic manifestations and diagnostic uncertainty. We report a 30-year-old man who initially presented with an ischemic stroke due to arterial dissection and was later diagnosed with vEDS following identification of a pathogenic COL3A1 variant. During follow-up, he developed a large cavitary lung lesion initially treated as an abscess, as well as multiple bilateral pulmonary nodules, some cavitated or surrounded by ground-glass halos, that raised concern for malignancy or infection. Extensive workup with PET/CT, bronchoscopy, and comprehensive microbiologic, cytologic, and immunologic testing was inconclusive, and invasive procedures were avoided because of the high bleeding risk. The multidisciplinary team concluded that the findings were intrapulmonary hematomas from vascular fragility. This case emphasizes the need to consider vEDS-related vascular complications in atypical pulmonary lesions to avoid harmful interventions, and highlights the importance of coordinated, multidisciplinary management.