Spontaneously ruptured splenic aneurysm in a young patient with Ehlers–Danlos syndrome

Abstract

The authors describe a young patient with a history of type IV vascular Ehlers–Danlos syndrome (EDS) who underwent successful treatment for a spontaneous haemorrhage from a splenic artery aneurysm, and the authors would like to remind clinicians of the mortality and morbidity associated with vascular-type EDS.

Background

Ehlers–Danlos syndrome (EDS) is an inherited rare disorder of collagen synthesis which can be divided into subtypes. The main clinical manifestations are skin hyperextensibility, joint hypermobility, easy bruising and general connective tissue fragility. Type IV vascular EDS is characterised by the fragility of medium-sized and large arteries and veins, which predisposes the patient to potentially life-threatening haemorrhage, and by a characteristic facial appearance with thin translucent skin.

Case presentation

A 27-year-old male presented to the emergency department with a 4-h history of acute onset epigastric pain. There was no history of trauma. He was tachypnoeic, tachycardic and hypotensive. The patient responded to initial management with an intravenous fluid challenge of 2 l of crystalloid and to oxygen therapy.

He had been diagnosed with EDS vascular type IV in childhood. His medical history included admission for haematemesis at the age of 25, investigated by means of gastroscopy, and admission for haemoptysis at the age of 26, investigated with bronchoscopy and CT pulmonary angiogram. He had bilateral clubfoot surgery at age 1 and 4, and underwent lengthening of the tendo Achillis at age 5. He had recently been seen by a rheumatologist for chronic knee pain with recurrent dislocation of the right patella and ultrasound-confirmed patellar ligament degeneration.

Family history revealed that his mother died at the age of 37 from a vascular complication, reported to be a spontaneous pulmonary vessel rupture. His sister was treated at age 16 for spontaneous sigmoid colon perforation and underwent an emergency Hartmann’s procedure. She later had a completion colectomy with ileo-rectal anastomosis under the same surgeon (JF) reporting this case.

On examination, characteristic facial appearance with thin skin and prominent veins were noted. He was tender in the epigastrium and left hypochondrium with localised guarding of the abdomen.

Investigations

Following initial management, the patient underwent an emergency CT scan of thorax and abdomen. This showed evidence of recent intra-abdominal haemorrhage with a possible splenic rupture and splenic aneurysm (figure 1). On the basis of the CT scan and the clinical history, he was taken to the operating theatre for explorative laparotomy.

Figure 1.

CT showing the splenic artery aneurysm (arrow), haemoperitoneum and splenic infarcts.

Treatment

At operation, free blood was encountered in the peritoneal cavity with a haematoma in the lesser sac. The spleen was intact but showed a large area of infarction at the superior pole. The lesser sac haematoma was explored. There was bleeding proximally from the splenic artery. Splenectomy and ligation of the splenic artery were performed as close to its origin near the coeliac axis as possible.

Postoperatively, the patient was managed on the high dependency unit. On postoperative day 1, he underwent mesenteric CT angiography. This confirmed position of the ligature of the splenic artery close to its origin near the coeliac axis. The coeliac axis was shown to be aneurysmal (figures 2 and 3). CT angiography also revealed an ectatic left renal artery just proximal to the renal entry zone with an area of infarction in the left kidney.

Figure 2.

Postoperative CT angiogram showing aneurysmal coeliac axis (arrow).

Figure 3.

CT angiogram reconstruction depicting aneurysm of coeliac axis.

Outcome and follow-up

The patient was subsequently referred to the local vascular unit for management of the aneurysmal coeliac axis. However, based on radiographic appearance, stenting of the aneurysm was not possible for fear of occluding the common hepatic and left gastric arteries.

He developed a temperature on postoperative day 5 without clear evidence of a septic focus and was treated with broad spectrum antibiotics. He was discharged on day 10 with the usual splenectomy precautions.

The patient was seen in clinic 6 weeks postoperatively and had returned to normal activities. He will be followed up by the vascular team with a repeat CT angiogram at 6 months.

Discussion

EDS vascular type IV is an autosomal dominant disorder of collagen first classified by Barabas.¹ It is caused by mutations in the COL3A1 gene encoding the pro α 1 (III) chain of type III collagen. It has the worst prognosis of all EDS types, because of the risk of fatal haemorrhage and spontaneous intestinal perforation. The common locations of arterial bleeding are in the abdominal cavity and mostly involve medium-sized arteries, such as the mesenteric, renal or splenic arteries. Patients with type IV EDS display a characteristic facial appearance with prominent eyes, a fine pinched nose, small lips and lobeless ears. Hypermobility is usually limited to the small joints of the hands, and congenital clubfoot and chronic joint dislocation are common presentations.²

To our knowledge, only four cases of spontaneous splenic artery rupture secondary to aneurysm have been described in the literature, with 25% mortality.^3–6 Spontaneous fatal parenchymal haemorrhage of the spleen has also been described in two patients with EDS.^{7 8} Our patient’s family history highlights the potentially fatal nature of this collagen disorder with both vascular and intestinal complications seen in the same family.

In this case, we managed the patient successfully through early investigation, laparotomy, splenectomy and ligation of the splenic artery as proximal to its origin as possible. In a recent series from the Mayo Clinic, over 70% of operations on patients with vascular type EDS were performed on an emergency basis.⁵ Elective repair of a coeliac aneurysm has been reported, but would normally be indicated only in imminently life-threatening lesions.⁹

Radiological intervention for the coeliac axis aneurysm in the postoperative phase was not feasible. It would have also carried a high risk of procedure-related complications, especially vessel rupture due to the fragility of the arterial wall. However, successful embolisation of a splenic artery aneurysm in a patient with EDS has recently been described.¹⁰

Learning points.

• ▶Spontaneous intra-abdominal haemorrhage must be considered in any patient with EDS who presents with abdominal pain.
• ▶Intraoperatively, meticulous tissue handling and atraumatic surgical technique are essential.
• ▶Management of vascular abnormalities requires a multi-disciplinary approach including general and vascular surgeons as well as general and interventional radiologists.
• ▶Unless the patient presents as surgical emergency, conservative management is preferred.
• ▶Involvement of a clinical geneticist will be necessary in healthy patients who present with ruptured vessels in unexpected locations.