Vascular Ehlers–Danlos syndrome (vEDS): CT and histologic findings of pleural and lung parenchymal damage
- 2 March 2021
- journal article
- research article
- Published by Springer Science and Business Media LLC in European Radiology
- Vol. 31 (8), 1-11
- https://doi.org/10.1007/s00330-021-07710-6
Abstract
To describe CT features of lung involvement in patients with vascular Ehlers–Danlos syndrome (vEDS), a rare genetic condition caused by pathogenic variants within the COL3A1 gene, characterized by recurrent arterial, digestive, and pulmonary events. All consecutive vEDS patients referred to the national tertiary referral center for vEDS, between 2004 and 2016, were included. Chest CT scans obtained during the initial vascular work-up were reviewed retrospectively by two chest radiologists for lung involvement. Five surgical samples underwent histologic examination. Among 136 enrolled patients (83 women, 53 men; mean age 37 years) with molecularly confirmed vEDS, 24 (17.6%) had a history of respiratory events: 17 with pneumothorax, 4 with hemothorax, and 3 with hemoptysis that required thoracic surgery in 11. CT scans detected lung parenchymal abnormalities in 78 (57.3%) patients: emphysema (mostly centrilobular and paraseptal) in 44 (32.3%), comparable for smokers and non-smokers; clusters of calcified small pulmonary nodules in 9 (6.6%); and cavitated nodules in 4 (2.9%). Histologic examination of surgical samples found arterial abnormalities, emphysema with alveolar ruptures in 3, accompanied by diffuse hemorrhage and increased hemosiderin resorption. In vEDS patients, identification of lung parenchymal abnormalities is common on CT. The most frequently observed CT finding was emphysema suggesting alveolar wall rupture which might facilitate the diagnostic screening of the disease in asymptomatic carriers of a genetic COL3A1 gene mutation. The prognostic value and evolution of these parenchymal abnormalities remain to be evaluated. • Patients with vEDS can have lung parenchymal changes on top of or next to thoracal vascular abnormalities and that these changes can be present in asymptomatic cases. • The presence of these parenchymal changes is associated with a slightly higher incidence of respiratory events (although not statistically significant). • Identification of the described CT pattern by radiologists and chest physicians may facilitate diagnostic screening.This publication has 36 references indexed in Scilit:
- Diagnosis, natural history, and management in vascular Ehlers–Danlos syndromeSeminars in Medical Genetics, Part C of the American Journal of Medical Genetics, 2017
- The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndromeEuropean Journal of Human Genetics, 2015
- Ehlers-Danlos Syndrome Type IV with Bilateral PneumothoraxInternal Medicine, 2015
- Respiratory complications of Ehlers–Danlos syndrome type IVLegal Medicine, 2013
- Vascular Complications of Ehlers-Danlos Syndrome: CT FindingsAmerican Journal of Roentgenology, 2012
- Ehlers-Danlos Syndrome with Recurrent Spontaneous Pneumothoraces and Cavitary Lesion on Chest X-ray as the Initial ComplicationsInternal Medicine, 2009
- Vascular Ehlers-Danlos Syndrome: Imaging FindingsAmerican Journal of Roentgenology, 2007
- The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: A 30-year experienceJournal of Vascular Surgery, 2005
- Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular TypeThe New England Journal of Medicine, 2000
- Respiratory complications of Ehlers‐Danlos syndrome type IVClinical Genetics, 1996