Asymptomatic Pulmonary Involvement as the Initial Presentation of Vascular Ehlers-Danlos Syndrome with a Novel COL3A1 Frameshift Variant: A Case Report

Vascular Ehlers-Danlos syndrome (vEDS), a rare connective tissue disorder caused by pathogenic COL3A1 variants, rarely presents with isolated pulmonary manifestations in asymptomatic cases. We herein report the case of a 36-year-old asymptomatic man with incidentally discovered fluctuating pulmonary nodules and cavitary lesions. A histopathological examination revealed nodular fibrosis and focal pulmonary ossification, indicating a disruption of the pulmonary architecture and pulmonary hemosiderosis. Genetic testing revealed a novel COL3A1 frameshift variant, confirming that the attenuated vEDS phenotype is attributable to haploinsufficiency. This case report highlights the diagnostic significance of asymptomatic pulmonary diseases.