Vascular type Ehlers-Danlos Syndrome with fatal spontaneous rupture of a right common iliac artery dissection: case report and review of literature

Abstract

Vascular Ehlers-Danlos Syndrome (previously Ehlers-Danlos IV) is a rare autosomal dominant collagen vascular disorder caused by a 2q31 COL3A1 gene mutation encoding pro-alpha1 chain of type III collagen (in contrast to classic Ehlers-Danlos, caused by a COL5A1 mutation). The vascular type accounts for less than 4% of all Ehlers-Danlos cases and usually has a poor prognosis due to life threatening vascular ruptures and difficult, frequently unsuccessful surgical and vascular interventions. In 70% of cases, vascular rupture or dissection, gastrointestinal perforation, or organ rupture is a presenting sign. We present a case of genetically proven vascular Ehlers-Danlos with fatal recurrent retroperitoneal hemorrhages secondary to a ruptured right common iliac artery dissection in a 30-year-old male. This case highlights the need to suspect collagen vascular disorders when a young adult presents with unexplained retroperitoneal hemorrhage, even without family history of such diseases.

Keywords: Arterial dissection; Arterial rupture; Axial CT; Back pain; Collagen vascular disease; Common iliac artery dissection; Ectasia; Ehlers-Danlos Syndrome; Elastin; Hypovolemic shock; Iliac artery; Perforation; Retroperitoneal hematoma; Retroperitoneal hemorrhage; Vascular fragility; Vascular imaging; Vascular type Ehlers-Danlos Syndrome.

Figure 1

30-year-old male with vascular type EDS and fatal ruptured right common iliac artery dissection. FINDINGS: An oblique 3D volume image of the pelvic bones and the iliac vessels was reconstructed from the axial contrast enhanced CT (CECT) of the pelvis. There is small (approximately 1 cm) anterior saccular aneurysmal dilatation of the distal right common iliac artery and the proximal right external iliac artery (arrow) at the level of the origin of the right internal iliac artery. This is the aneurysmally dilated false lumen. The true lumen is narrowed and compressed posteriorly. The vessels reconstitute distally through pelvic collaterals from the left internal iliac artery. TECHNIQUE: 3D volume rendered image, the original acquisition done using Siemens Sensation 64 slice multi-detector CT, 180mAs, 120KVP, 5mm axial slice thickness, 100ml of Optiray 350 intravenous contrast agent.

Figure 2

30-year-old male with vascular type EDS and fatal ruptured right common iliac artery dissection. FINDINGS: Axial CECT of pelvis in the arterial phase performed when the patient initially presented to the emergency department demonstrates large right retroperitoneal hematoma (large arrow) and a large hematoma anterior to the right external iliac artery (stellate mark). A posterior dissection flap divides the proximal right external iliac artery into a larger anterior false lumen and a smaller compressed posterior true lumen (small arrow). The proximal right internal iliac artery is seen posterior to the dissected right external iliac artery. Note the loss of the normal interface between the vessel wall and the mesenteric fat by the hemorrhagic fat stranding. TECHNIQUE: Siemens Sensation 64 slice multi-detector CT, 300mAs, 120KVP, 3mm axial slice thickness, 120ml of omnipaque 360 intravenous contrast agent.

Figure 3

30-year-old male with vascular type EDS and fatal ruptured right common iliac artery dissection. This image was taken after open resection of the aneurysm and ligation of the CIA at its origin. FINDINGS: Post surgical follow up axial CECT of the pelvis in the arterial phase demonstrates a large left retroperitoneal hematoma anterior to the left common iliac artery bifurcation and the left psoas muscle (large black arrow). A left psoas muscle hematoma (stellate mark) is seen as asymmetrically and hyper-densely enlarged in comparison to the right psoas muscle. There is a small amount of extravascular leakage of the intravenous contrast anterior to the right psoas muscle in the right lower quadrant (white arrow), which is suggestive of either vascular repair leakage or new vascular rupture after surgical excision and ligation of the ruptured right common iliac artery dissection. Note left internal iliac artery dissection (thin black arrow) and absent opacification of the right external and internal iliac arteries at the same level. TECHNIQUE: Siemens Sensation 64 slice multi-detector CT, 120KVP, 300mAs, 3mm axial slice thickness, 120ml of omnipaque 360 intravenous contrast agent.

Figure 4

30-year-old male with vascular type EDS and fatal ruptured right common iliac artery dissection. This image was taken after open resection of the aneurysm and ligation of the CIA at its origin. FINDINGS: Coronal reformation of the postoperative axial enhanced CT of the pelvis in the arterial phase demonstrates large left retroperitoneal hematoma (stellate mark) causing significant mass effect and upward displacement of the left kidney and a small lateral side wall left internal iliac artery dissection with a larger lateral false lumen and a smaller compressed medial true lumen (arrow). Note absent opacification of the surgically removed right common iliac artery and also note the left psoas intra-muscular hematoma. TECHNIQUE: Coronal 4mm slice thickness reconstruction of the abdomen and pelvis, the original acquisition was done using a Siemens Sensation 64 slice multi- detector CT, 180mAs, 120KVP, 5mm coronal slice thickness, 120ml of omnipaque 360 intravenous contrast agent.

Figure 5

30-year-old male with vascular type EDS and fatal ruptured right common iliac artery dissection. FINDINGS: High magnification (4x, objective 22) H&E (Haematoxylin eosin) stain of the surgically excised right common iliac artery demonstrates median arterial dissection and hemorrhage (stellate mark).

Figure 6

30-year-old male with vascular type EDS and fatal ruptured right common iliac artery dissection. FINDINGS: Elastin stain (10x, objective 22) of the surgically excised right common iliac artery demonstrates fragmentation of the elastin in the vessel wall (arrows).