대한흉부영상의학회 Korean Society of Thoracic Radiology

Discussion

Diagnosis With Brief Discussion

Diagnosis

Ehlers-Danlos syndrome, vascular type

Radiologic Findings

Fig 1. Chest PA shows multifocal streaky opacities with surgical clips in both lungs fields, suggesting multiple bullectomy scars.
Fig 2. CT scan reveals multiple bullectomy scars, with unusual locations in both lower lobes.
Fig 3-4. A small cavitary nodule with peripheral GGO was noted in right lower lobe.
Fig 5. The cavitary nodule and GGO had disappeared after three months.

Brief Review

The patient has a history of recurrent pneumothorax and easy bruising. Through physical examination, joint laxity was observed. The COL3A1 variant was identified by NGS study, and he was diagnosed with Ehlers-Danlos syndrome, vascular type. Also, his father has a history of ruptured abdominal aorta.
The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. There are 13 subtypes, each with distinct mutations in various collagen-encoding genes and phenotypic manifestations. The vascular EDS (vEDS, type IV) is an autosomal dominant disease caused by a single allele mutation in the COL3A1 gene encoding for type III collagen. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000, vEDS representing approximately 5 to 10% of cases. vEDS is known as the most malignant form of EDS because of the high likelihood of developing spontaneous blood vessel rupture from aneurysms, dissections, transmural tears and rupture of the uterus and bowel. Respiratory system involvement is not common in EDS IV, but when present, pneumothoraces are the most common respiratory complications. Emphysema, bullae, cavitary nodules, and fibrous nodules can be seen on a chest CT scan and are hypothesized to be caused by spontaneous rupture of the alveolar wall and the creation and organization of hematoma. The fragility and disruption of vessels and alveoli may cause hemorrhage and hemoptysis. Patients should undergo routine surveillance by noninvasive imaging of the chest, abdomen, and pelvis to monitor the progression of vascular complications.

References

1. Hatake K, Morimura Y, Kudo R, Kawashima W, Kasuda S, Kuniyasu H. Respiratory complications of Ehlers-Danlos syndrome type IV. Leg Med (Tokyo). 2013;15(1):23-27. doi:10.1016/j.legalmed.2012.07.005
2. Boussouar S, Benattia A, Escudié JB, et al. Vascular Ehlers-Danlos syndrome (vEDS): CT and histologic findings of pleural and lung parenchymal damage. Eur Radiol. 2021;31(8):6275-6285. doi:10.1007/s00330-021-07710-6
3. Gorospe Sarasúa L, Muñoz-Molina GM, Arrieta P. The Many Radiological Presentations of Pulmonary Nodules in Type IV Ehlers-Danlos Syndrome. Arch Bronconeumol (Engl Ed). 2018;54(12):626. doi:10.1016/j.arbres.2018.05.020
4. Chohan, K., Mittal, N., McGillis, L., Lopez-Hernandez, L., Camacho, E., Rachinsky, M., Mina, D. S., Reid, W. D., Ryan, C. M., Champagne, K. A., Orchanian-Cheff, A., Clarke, H., & Rozenberg, D. (2021). A review of respiratory manifestations and their management in Ehlers-Danlos syndromes and hypermobility spectrum disorders. Chronic respiratory disease, 18, 14799731211025313. https://doi.org/10.1177/14799731211025313

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