Cath Lab Digest

ABSTRACT: We report an unusual case of a patient with vascular Ehler-Danlos syndrome. This condition is significant because of the possibility of multiple vascular complications that result from increased vascular fragility.

VASCULAR DISEASE MANAGEMENT 2012:9(7):E109-E112

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Case Report

A 33-year-old male presented with persistent abdominal pain for a month. He had a past history of a blunt trauma to the abdomen many years ago with superficial injuries to the right lower limb. A CT scan of the abdomen done elsewhere showed a dissection of the abdominal aorta associated with a left-sided perinephric hematoma. His abdomen was soft to palpation with tenderness on the left lumbar region. His hemoglobin level was 8 gm%. Serum biochemical tests were normal. He did not have any relevant family history.

CT angiography (CTA) showed an aortic dissection, which extended from below the level of the superior mesenteric artery to the aortic bifurcation (Figures 1A and 1B). A 16 mm x 18 mm pseudoaneurysm was seen arising from a branch of the right hepatic artery (Figure 1C). There was also an arteriovenous fistula between the left hepatic artery and the left branch of the portal vein (Figures 2A and 2B). A loculated pleural effusion was seen along the posterior aspect of the left chest wall and within the major fissure. Multiple large subpleural bullae were present in both lungs. The coexistence of multiple unusual vascular complications and subpleural bullae in the lungs raised the possibility of a connective tissue disorder. Further physical examination revealed a high arched palate, clubbing, and an increased arm span:height ratio (168:163). There was no hypermobility of joints or hyperextensibility of skin. Serum markers for vasculitis were negative. The possibility of vascular Ehler-Danlos syndrome (VEDS) was considered.

A digital subtraction angiography (DSA) was performed (Figure 3A) and the pseudoaneurysm arising from the right hepatic artery was embolized (Figure 3B) with two 0.18 coils (platinum fibered coils, Boston Scientific/Target Therapeutics) and he was discharged in a stable condition. Three days later, he presented with acute abdominal pain, pallor, and tachycardia. His hemoglobin level was 7.8 gm%. CTA revealed increased dilatation and dissection of the celiac trunk and common hepatic artery (Figure 4) associated with a right-sided perinephric hematoma. He was managed conservatively, given blood transfusions, and discharged on recovery. However, he presented 5 days later with acute abdominal pain, distension, tachycardia, and hypotension. He required intubation and inotropic supports in the intensive care unit. A repeat CT angiography showed aneurysmal dilatation of the celiac trunk and common hepatic artery and extension of the dissection associated with a large pseudoaneurysm (Figure 5). Repeat DSA was done on an emergency basis (Figure 6A) and the aneurysmally dilated common hepatic artery was embolized with 20% Histoacryl glue (Figure 6B). There was no filling of the pseudoaneurysm in the post-embolization angiogram. The patient improved and was discharged when he stabilized a few days later. He died at home a week later.

Discussion

VEDS is a rare connective tissue disorder and represents less than 4% of all types of Ehler-Danlos syndromes.¹ It affects medium- and large-sized arteries and is characterized by increased tissue fragility complicated by arterial, intestinal, and uterine rupture.¹ This condition occurs due to a heterozygous mutation in the COL3A1 gene leading to reduced production of type 3 procollagen and results in increased vascular fragility.¹