What question did this study set out to answer?

To present a case of asymptomatic pulmonary involvement in a patient with vascular Ehlers-Danlos syndrome caused by a novel COL3A1 variant.

May 18, 2026Open Access

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

HNHitomi NogawaYamagata Prefectural Central Hospital HSHiroki SuzukiYamagata Prefectural Central Hospital YKYoshinori KawabataSaitama Prefecture

Key Points

To present a case of asymptomatic pulmonary involvement in a patient with vascular Ehlers-Danlos syndrome caused by a novel COL3A1 variant.
Case report of a 36-year-old man with incidentally discovered pulmonary nodules and cavitary lesions.
Histopathological examination and genetic testing were performed to confirm the diagnosis.
Evaluation of pulmonary architecture disruption and hemosiderosis.
Histopathological examination revealed nodular fibrosis and focal pulmonary ossification.
Genetic testing identified a novel COL3A1 frameshift variant linked to the attenuated vEDS phenotype.
The case emphasizes the need to consider pulmonary assessments in asymptomatic individuals.

Abstract

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.

AI에게 질문

Bookmark

View Full Paper