대한흉부영상의학회 Korean Society of Thoracic Radiology

Discussion

Diagnosis With Brief Discussion

Diagnosis

Ehlers-Danlos syndrome, vascular type

Radiologic Findings

Fig 1. Chest PA shows several nodular opacities and cavities in the left lung and band-like linear opacities with parenchymal distortion in the left lower lung zone. Also, left sided pneumothorax is noted.

Fig 2-7. CT scans reveal cavitary lesions with poorly defined ground-glass opacities in left upper and lower lobes. In the left lower lobe, ill-defined opacities with a reticular pattern, nodular consolidations, and emphysema are revealed.

Brief Review

Ehlers-Danlos syndrome type IV (EDS IV), the vascular type, is an autosomal dominant inherited disease caused by a single allele mutation in the COL3A1 gene coding for type III collagen. The diagnosis is confirmed by demonstrating the synthesis of abnormal type III procollagen molecules from cultured dermal fibroblasts or by identifying the mutation in the COL3A1 gene. Ehlers-Danlos syndrome clinically manifests with skin hyperelasticity and fragility, joint hypermobility, blood vessel fragility with bleeding diathesis, and poor tissue healing with delayed healing with tissue paper-like scarring. Respiratory system involvement is not common in EDS IV, but when present, pneumothoraces are the most common respiratory complications. Hemoptysis, bulla formation, cavitary pulmonary lesions, and fibrous pseudotumor have also been described. The most frequently observed CT finding was emphysema suggesting alveolar wall rupture. Other pulmonary manifestation of Ehlers-Danlos syndrome type IV is predominantly characterized by ground-glass opacification with occasional consolidation on CT. Very few references are available on the pulmonary radiological manifestations of this rare syndrome, but they seem to be triggered by the spontaneous formation of lung lacerations (caused by systemic tissue fragility), which may progress to bruising, cavitary nodules, fibrous nodules, and finally nodules with metaplastic ossification. Arterial abnormalities in patients with vascular Ehlers-Danlos syndrome frequently involve multiple vascular segments. 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 Jan;15(1):23-7. doi: 10.1016/j.legalmed.2012.07.005. Epub 2012 Aug 30. PMID: 22940417.
2. Boussouar S, Benattia A, Escudié JB, Gibault L, Capron F, Legrand A, Brillet PY, Jeunemaitre X, Grenier PA, Mousseaux E, Frank M, Sanchez O. Vascular Ehlers-Danlos syndrome (vEDS): CT and histologic findings of pleural and lung parenchymal damage. Eur Radiol. 2021 Aug;31(8):6275-6285. doi: 10.1007/s00330-021-07710-6. Epub 2021 Mar 2. PMID: 33651202.
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 Dec;54(12):626. English, Spanish. doi: 10.1016/j.arbres.2018.05.020. Epub 2018 Jul 3. PMID: 29980309.
4. 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. doi: 10.2214/AJR.11.6603. PMID: 22268198.

Keywords

Ehlers-Danlos syndrome, vascular type ,