Rapidly progressive arterial aneurysms in a patient with Ehlers–Danlos syndrome

A 30-year-old female with Ehlers–Danlos syndrome and prior right iliac dissection treated with covered stent placement in 2005 presented with acute severe left leg pain. It began with arising from bed and was exacerbated by left hip flexion. Initial evaluation with arterial Duplex imaging revealed evidence of dissection extending from the proximal left common iliac artery to the proximal left superficial femoral artery. Computed tomographic (CT) angiography was performed and confirmed dissection with aneurysmal dilatation of the left common iliac artery to 2.0 × 1.7 cm (Panel A). The patient required intravenous narcotics and was admitted for pain control. A repeat CT angiogram four days later revealed further dilation of the left common iliac artery to 2.4 × 2.0 cm and new aneurysmal dilatation of the proximal left superficial femoral artery (Panel B). Owing to the growth of the aneurysm a third CT angiogram was obtained two days later. This revealed rapid expansion of the common iliac artery aneurysm to 3.3 × 2.7 cm as well as expansion of the proximal superficial femoral artery aneurysm (Panel C). Consequently, the patient underwent left iliac and femoral artery aneurysm repair with a 6-mm ringed Gore-Tex interposition graft. Endovascular repair was considered, but not pursued due to the length of vessel involved. Follow-up CT angiography confirmed the adequacy of the surgical repair (Panel D).

Panel A. Panel B. Panel C. Panel D.

Vascular Ehlers–Danlos syndrome, also known as type IV, is an autosomal dominant disorder, caused by a defect in the COL3A1 gene which encodes for type III collagen. ¹ Vascular complications are common, as are complications resulting from pregnancy. Bowel rupture may also occur and accounts for up to 25% of events. Up to 80% of patients with vascular Ehlers–Danlos syndrome will have a clinical event by the age of 40 years, and medial survival is 48 years. ² Multiple mutations in the genes encoding for the COL3A1 gene have been identified. The prognosis and pattern of vascular involvement varies based upon the type of mutation. ³ Surgical repair of vascular complications of Ehlers–Danlos syndrome may be difficult due to tissue fragility. Endovascular therapy has become an option for treatment in cases of dissection or fistula formation. ⁴ There are no specific therapies for Ehlers–Danlos syndrome, but the diagnosis should be considered and genetic testing performed in young patients with unexplained vascular dissection or rupture, as diagnosis may influence decision making regarding the treatment of future complications. ²

‘Images in vascular medicine’ is a regular feature of Vascular Medicine. Readers may submit original, unpublished images related to clinical vascular medicine. Submissions may be sent to: Heather Gornik, Editor in Chief, Vascular Medicine, via the web-based submission system at http://mc.manuscriptcentral.com/vascular-medicine