대한흉부영상의학회 Korean Society of Thoracic Radiology

Discussion

Diagnosis With Brief Discussion

Diagnosis

Ehlers-Danlos syndrome, vascular type

Radiologic Findings

Fig 1. Chest posteroanterior (PA) radiograph reveals a focal increased opacity in the left lower lung zone.
Fig 2-4. Axial and coronal non-enhanced chest CT images with lung-window settings demonstrate an irregular shaped cystic lesion with peripheral consolidation and surrounding ground-glass opacities in the left lower lobe.
Fig 5. Follow-up chest PA radiograph obtained one month later shows a newly developed left-sided hydropneumothorax.
Fig.6-8. Follow-up non-enhanced chest CT images with lung-window settings reveal migrating cystic and nodular lesions in the both lower lobes with a newly developed small amount of left hydropneumothorax.

Brief Review

The patient had a history of recurrent hemoptysis and spontaneous pneumothorax. She underwent wedge resection of the left lower lobe, which revealed pulmonary hemorrhage with hemosiderosis on histopathologic examination. A COL3A1 variant was identified by NGS study, leading to the diagnosis of vascular Ehlers-Danlos syndrome.
Ehlers-Danlos syndromes (EDS) comprise a clinically and genetically heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Thirteen subtypes have been described, each associated with distinct mutations in various collagen-encoding genes and specific phenotypic features. Vascular EDS (vEDS, type IV) is an autosomal dominant disorder caused by a pathogenic variant in one allele of the COL3A1 gene, which encodes type III collagen.
The estimated prevalence for all EDS ranges from 1/10,000 and 1/25,000, with vEDS accounting for approximately 5-10% of cases. Vascular EDS is considered the most severe subtype due to the high risk of spontaneous rupture of blood vessels, including aneurysms, dissections, transmural tears, and rupture of the uterus and bowel.
Respiratory involvement in vEDS is uncommon; however, when present, pneumothorax is the most frequent manifestation. Other reported thoracic CT findings include emphysema, bullae, cavitary nodules, and fibrous nodules, which are hypothesized to result from spontaneous rupture of the alveolar walls followed by hemorrhage and subsequent organization of hematoma. Additional pulmonary manifestations of vEDS may present predominantly as ground-glass opacities with occasional areas of consolidation on CT. Although only limited literature exists regarding the pulmonary radiologic features of this rare syndrome, these findings are thought to be triggered by spontaneous lung lacerations related to systemic tissue fragility. These lesions may evolve into pulmonary bruising, cavitary nodules, fibrous nodules, and, ultimately, nodules with metaplastic ossification.
Arterial abnormalities in patients with vEDS often involve multiple vascular segments. The intrinsic fragility and disruption of vessels and alveolar structures may lead to pulmonary hemorrhage and hemoptysis. Therefore, routine surveillance with noninvasive imaging of the chest, abdomen, and pelvis is recommended to monitor the progression of vascular complications.

References

1. Chu LC, Johnson PT, Dietz HC, Brooke BS, Arnaoutakis GJ, Black JH 3rd, Fishman EK. Vascular complications of Ehlers-Danlos syndrome: CT findings. AJR Am J Roentgenol. 2012 Feb;198(2):482-7
2. Boussouar S, Benattia A, Escudi

Keywords