Renal Arterial Aneurysm Rupture as a First Presentation of Vascular Ehlers Danlos Syndrome

A healthy 33-year-old male patient presented to the Emergency Department with left flank pain, fever and haematuria. The clinical impression was of suspected renal colic. However, his blood pressure and haemoglobin levels dropped, and acute intra-abdominal haemorrhage, secondary to a ruptured renal aneurysm, was diagnosed on imaging.

Initial, non-contrast, computed tomography (CT) of the renal tract (KUB), for renal colic work-up, demonstrated dense retroperitoneal fluid (haemoperitoneum).

A triple-phase (non-contrast, arterial and portal venous phase) CT showed a left renal infarction, splenic infarctions, a 7mm left renal artery aneurysm and 16mm splenic artery aneurysm.

Each stage of the endovascular procedure to isolate the aneurysms are shown in Figure 1 (a-d) from traversing the renal artery aneurysm, its rupture on stent-graft deployment, to splenic aneurysm coiling.

Follow-up CT angiography (Fig 2a) demonstrated a new right renal infarction and renal arterial aneurysm, not present on initial imaging, has rapidly evolved over days.

On diagnostic angiography (Fig 2b) this appeared too irregular for stent-grafting. Retrospective review of this imaging revealed, distal to the left renal arterial graft, a new aneurysmal dilatation.

Completion intracranial imaging), to exclude neurovascular abnormality, showed right intracranial internal carotid dissection and right middle cerebral arterial aneurysm (Fig 3).

Vascular Ehlers Danlos (vED) is a rare autosomal dominant disease caused by mutations in the COL3A1 gene[1]. It is associated with a poor prognosis (average life expectancy approximately 50 years[1,2]) due to its unpredictable course, predisposition to arterial complications and haemorrhage, and a lack of definitive treatment[2-4].

Associated with friable connective tissues, there is not only an increased risk of vascular complications, but also predisposition to spontaneous hollow viscus rupture (most often sigmoid colon) and pneumothoraces[2]. When it does involve the vessels, the process is diffuse, affecting small arteries (e.g. tibial arterial aneurysm has been described in the literature[5]), medium vessels (gastrointestinal and renal arteries; carotid and vertebral arteries; and iliac and femoral arteries, with respectively decreasing incidences reported[2]) and the aorta is also often involved. Dissections are most commonly encountered, with aneurysms and pseudoaneurysms in around one fifth[2].

In our case, the multifocal involvement of medium-sized solid visceral arteries and presence of fever gave an early working diagnosis of Polyarteritis Nodosa (PAN). Both rheumatological and infectious disease panels revealed no abnormality, however, and the patient had an intriguing family history - his father had died at a young age (when the patient himself was three years old), of a vascular or thromboembolic event of uncertain nature. The rapidly evolving vascular abnormalities gave cause to suspect a collagen vascular disease process. Clinical Genetics testing concluded features compatible with vED.

This case highlights the unpredictable nature of vED, with rapidly evolving aneurysms, whose evolution was evidenced to us on imaging over days. The friability of vascular connective tissue in vED is thought to render endovascular options riskier [6] – as we also experienced ourselves – and multidisciplinary team discussion is vital. Our intervention was performed emergently, without a clear working diagnosis, and was successful, with an intra-procedural complication that was quickly controlled.

At the time of writing, the patient is being managed conservatively, in terms of both his visceral and intracranial arterial complications, with strict blood pressure control.

Because of the rare nature of this diagnosis, aside from case reports, evaluation into the safety of endovascular intervention has been performed but limited to small numbers and elective cases[4,6-8]. It has been suggested that endovascular treatment should only be performed in life-threatening situations for patients with this pathological process – and conservative management (the mainstay of which is blood pressure control[9]) be preferred where possible[8]. Our experience would corroborate this.

Written informed patient consent for publication has been obtained.