Wiskott-Aldrich syndrome (WAS) is a rare, generally X-linked recessive condition, originally described by Wiskott in 19371 as a triad of discharging ears, eczema and thrombocytopoenia. Aldrich included bloody diarrhoea in his report of 19542, with severe immunodeficiency and predisposition to malignancy being recognised subsequently. The incidence currently quoted is approximately 4 per million live male births, although there is some regional variation3. We report the case of a long-term survivor who had massive haemorrhage from an intrahepatic aneurysm and, on a separate occasion, the right kidney.
Keywords: aneurysm, embolisation, vasculitis, Wiskott-Aldrich
J.R.Coll.Surg.Edinb., 45, October 2000, 326-328
A 24 year-old male with WAS underwent elective splenectomy in April 1997 to manage long-standing thrombocytopaenia, which had been complicated by episodic epistaxis, haemoptysis and large haematoma formation secondary to minor trauma. Following uneventful splenectomy and postoperative recovery the platelet count rose from 11x109/L to over 200x109/L.
He remained well for 12 months, then had an episode of melaena. Prior to further investigation, he developed small bowel obstruction and requiring to undergo laparotomy. A band adhesion was found and divided, along with several inter-loop adhesions. The post-operative period was initially uneventful, but 15 days after surgery, he passed a small amount of melaena, and was noted to be tachycardic and hypotensive with marked abdominal distension. After resuscitation, an emergency, contrast enhanced spiral computerised tomography (CT) scan of the abdomen demonstrated dilated small bowel containing high attenuation material consistent with fresh haemorrhage (Figure 1). Within the left lobe of liver several small, intensely enhancing lesions were identified, one of which was closely related to a haematoma (Figure 2). The patient's severe abdominal pain and haemodynamic instability necessitated immediate laparotomy, outweighing the need for further imaging.
Figure1: CT scan showing small bowel massively distended, containing blood
Figure 2: Contrast enhanced CT scan showing haematoma surrounding an aneurysm within the left lobe of liver
At laparotomy, the small bowel was hugely distended, and ileal enterotomy allowed evacuation of 2.5 litres of thrombus, decompressing the bowel. Gastroscopy at this time revealed no evidence of oesophageal or gastric haemorrhage; however, a large bile-stained blood clot was present in the second part of the duodenum, obscuring the ampulla. During the laparotomy intra-operative ultrasound confirmed the presence of a small pulsatile, vascular lesion surrounded by haematoma in the left lobe of the liver, consistent with an actively bleeding aneurysm (Figure 3). Following closure of the enterotomy and laparotomy the patient was transferred to the angiography suite.
Figure 3: Intra-operative ultrasound showing the aneurysm and haematoma
Initial digital subtraction studies of the superior mesenteric artery excluded anomalous hepatic arterial supply and demonstrated portal vein patency. Digital subtraction studies, using selective injection into the common hepatic artery, revealed multiple, small, peripheral aneurysms in both the right and left lobes of the liver. The largest left lobe aneurysm corresponded in position with the lesion identified on CT and intra-operative ultrasound. This lesion lay peripherally within the left lobe, necessitating the use of a 3 French Tracker 18 coaxial catheter system (Target therapeutics, Freemont, Ca-) to reach the supplying vessel (Figure 4). Distal micro-coil embolisation of the supplying vessel, and coiling of the length of the main left hepatic artery successfully prevented filling of the left lobe aneurysms, including the main lesion. Due to clinical concern about the patient's hepatic function, the right hepatic artery was not embolised at this time.
Figure 4: Selective arteriogram of the hepatic artery showing multiple small aneurysms
Following this procedure his condition improved for several days, but a further episode of hypotension, tachycardia and abdominal distension occurred one week later. Emergency angiography was performed, revealing two aneurysms in a distal jejunal branch of the superior mesenteric artery (Figure 5). Again these were successfully embolised distally, using a 3 French coaxial system and polyvinyl alcohol particles (Cook, Bloomington, In.). However, the patient remained hypotensive and laparotomy revealed a large right-sided perinephric haematoma. A right nephrectomy was performed and this achieved haemostasis.
Figure 5: Left hepatic artery angiogram demonstrating the peripheral site of the largest aneurysm
Subsequent pathological examination of the kidney revealed a vasculitic process in the middle sized renal arteries. Immunosuppressive therapy with cyclophosphamide and steroids was then commenced and no further bleeding episodes have occurred, to date.
WAS is an X-linked disorder but the exact chromosomal defect can vary. Although this patient had a negative WAS protein gene test, the T lymphocyte subsets CD3 and CD4 were low and platelet size was reduced in keeping with WAS. Having no siblings, the patient was not suitable for HLA matched bone marrow transplantation, which is at present the treatment of choice giving cure rates of 85% or more.4 Splenectomy with long-term prophylactic antibiotic cover was felt to offer the best outcome.5
Following the initial episode of haemorrhage, the patient's inflammatory markers were noted to be persistently elevated, and in the absence of an infective source, the possibility that the aneurysms were due to an inflammatory process was considered.
Vasculitis is a known complication of WAS, but it is most often associated with lymphocytoclastic dermal vasculitis.6,7
While intra-cerebral and thoracic aortic aneurysms have been described in association with WAS8, we believe this is the first description of haemorrhage from intra-hepatic micro-aneurysms in this condition.
Histological evaluation of the nephrectomy specimen revealed marked fibrinoid necrosis within vessel walls and a surrounding inflammatory cell infiltrate. An area of haemorrhage within the kidney contained the impression of a large vessel, suggesting that this might represent aneurysmal dilatation of the vessel. While the vasculitic process involved principally medium-sized arteries near the renal hilum, vessels within the renal substance were also involved. It seems likely, therefore, that the mesenteric and intra-hepatic aneurysms were also due to vasculitis. This patient’s hypertension may have induced to form aneurysms in vessels already weakened by an inflammatory process.
This case highlights the need for awareness of imaging and treatment modalities available in cases of massive intra-abdominal bleeding, and we believe this is the first report of aneurysm formation within intra-abdominal viscera in a patient with Wiskott-Aldrich syndrome.
Copyright date: 4th February 2000
Correspondence to: WC Loan, 26 Greenwood Glen, Purdysburn
Road, Belfast BT8 4WE
©2000 The Royal College of Surgeons of Edinburgh, J.R.Coll.Surg.Edinb.
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