British Journal of Radiology (2008) 81, e17-e19
© 2008 British Institute of Radiology
doi: 10.1259/bjr/66055283
Familial colonic varices — a cause of "polyposis" on barium enema
L Zaman, MRCP1,
J R Bebb, PhD, MRCP1,
S P Dunlop, DM, MRCP1,
J C Jobling, FRCS(Ed), FRCR2 and
K Teahon, FRCP1
Departments of 1 Gastroenterology and 2 Clinical Radiology, Nottingham City Hospital, Hucknall Road, Nottingham, NG7 1PB, UK
Correspondence: Dr James Bebb, Department of Gastroenterology, King's Mill Hospital, Mansfield Road, Sutton in Ashfield, Nottinghamshire, NG17 4JL, UK. E-mail: jamesbebb{at}doctors.org.uk
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Abstract
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A 61-year-old woman with diarrhoea had multiple filling defects on a barium enema and was assumed to have multiple colonic polyps. However, colonoscopy showed colonic varices and relatively few true polyps. She bled significantly after polypectomy of a tubular adenoma. There was no evidence to support a diagnosis of portal hypertension or liver disease. A case report of her father's idiopathic colonic varices has previously been reported in this journal in 1985, and we update his subsequent progress and discuss other reports of this rare condition.
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Introduction
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Colonic varices are a rare cause of lower gastrointestinal (GI) bleeding and, in almost all cases, are a consequence of portal hypertension or liver cirrhosis. 3–7% of cirrhotic patients have rectal varices on endoscopy [1, 2]. However, there are a small number of idiopathic cases reported in which portal hypertension has been excluded as a cause. A significant proportion of these cases are familial. We provide an update on a family first described in this journal in 1985 [3] and on other familial cases described since that time.
In 1985, Hawkey et al [3] described a male patient with a 40-year history of recurrent lower GI bleeding who required frequent blood transfusion. In 1951, when he was 35 years old, a barium enema was interpreted as showing multiple polyps throughout the colon. However, rigid sigmoidoscopy revealed large venous varicosities. Over the next 30 years, he was frequently admitted with melaena, requiring transfusion and regular iron infusions. At the age of 66, he was re-investigated following a significant bleed; a double contrast barium enema showed serpiginous filling defects throughout the colon, which were confirmed by colonoscopy as varices. There was no evidence of varices in the upper GI tract or small bowel, as assessed by oesophogastroduodenoscopy (OGD) and small bowel barium studies, respectively, and his portal vein was patent on ultrasound examination. At that time, his sister (aged 44 years) had also suffered recurrent GI bleeding and was known to have varices throughout her GI tract.
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Case history
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Our patient, the daughter of the index patient, had 4 episodes of brisk, dark red, rectal bleeding between the ages of 17 and 23 years, but these resolved spontaneously and were not investigated. At the time of her father's re-investigation in 1985, when she was aged 44 years, she declined further investigation. She remained symptom free until 2002 when, aged 61 years, she presented to us with a 6-month history of intermittent diarrhoea. A barium enema revealed multiple filling defects, initially interpreted as multiple polypoidal lesions within the colon (Figure 1
). Colonoscopy revealed two large pedunculated polyps in the sigmoid colon and marked venous varicosities throughout the colon from the caecum to rectum (Figure 2). The varices were more marked in the left colon (Figure 3). A polypectomy of one of the sigmoid polyps, confirmed histologically as a tubular adenoma, was complicated by significant haemorrhage, which was treated endoscopically. The patient declined to undergo further investigation in terms of portal pressure studies with liver biopsy. Clinical examination, laboratory tests for full blood count and coagulation, and liver function tests have always been within normal limits, with no evidence of liver disease. Further polypectomy of the remaining sigmoid polyp has not been attempted, although the patient continues to be kept under follow-up and is currently well, with no further episodes of gastrointestinal bleeding.
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Figure 1. A prone view from the double contrast barium enema with a magnified view of the transverse colon. Solid arrows demonstrate"masses" indenting the bowel wall, misinterpreted as polyps. Open arrows point to the numerous serpiginous impressions in the barium, representing extensive varices.
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Figure 3. Local detail from a digital spot image of the sigmoid, including part of the transverse colon. Solid arrows demonstrate"masses" indenting the bowel wall, misinterpreted as polyps. Open arrows point to the numerous serpiginous impressions in the barium, representing extensive varices.
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Following the admission of our patient and the subsequent findings, we took the opportunity to find out what had happened to her father. After the case report in 1985, he was readmitted to hospital 4 years later aged 73 with further GI bleeding. His haemoglobin levels had dropped to 4.4 g dl–1. He was transfused and discharged, but was rapidly readmitted with chest problems and subsequently died after developing multi-organ failure. A post-mortem revealed large tortuous dilated submucosal superficial vessels in the caecum and ascending colon (suggesting colonic varices), associated with submucosal haemorrhage. The large bowel contained altered blood, consistent with a recent haemorrhage. Of note, the oesophagus, stomach and small intestine were all normal, with no evidence of varices or abnormal blood vessel formation. The liver was congested but not cirrhotic. The cause of death was recorded as GI haemorrhage secondary to colonic varices.
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Discussion
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His daughter, our patient, had suffered several episodes of rectal bleeding as a young woman but remained well until she was 61 years old, when she had her barium enema performed. It is quite possible that her presenting symptom of intermittent diarrhoea was incidental and it was only at polypectomy that she experienced a further bleed. Although, without definitive investigations, we have no conclusive proof that our patient does not have underlying liver disease (with subsequent portal hypertension) or portal venous obstruction that could have caused her colonic varices, normal haematology and biochemistry makes this unlikely. The history of variceal bleeding of her aunt and confirmation of non-cirrhotic colonic varices at the post-mortem of her father strongly suggest that there is an inherited abnormality that leads to the formation of colonic varices. All three family members had their first presentation of GI bleeding when relatively young, and only experienced major bleeding (in the context of polypectomy in our patient) requiring transfusion in later years, possibly as a result of vascular degenerative change.
At the time of the 1985 case report, there had been only two previous reports of familial colonic varices [4, 5]. There have since been only six further families identified in the literature [6–11]. We have identified an additional 10 reports of idiopathic colonic varices with no other known family member affected [12–21]. In each family, affected cases have presented with recurrent lower GI bleeding, with varices subsequently identified on colonoscopy. Bleeding secondary to attempted biopsy is a recurring problem in these cases. Management of varices in the absence of portal hypertension has been predominantly conservative, as in our case, but resection of the affected bowel has been necessary for cases with major or recurrent bleeding.
This case illustrates an unusual cause of GI bleeding; we believe that the patients in this family have a significant inborn vascular anomaly. This case also emphasizes the importance both of taking a family history and of confirming unusual appearances at barium enema by direct visualization at colonoscopy.
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Authorship
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LZ and JB were responsible for the conception, design and drafting of the article, and acquisition of data. SD, JCJ and KT were involved in conception, critical revisions and final approval for publication. JB has overall responsibility for integrity of the data and report.
Received for publication September 9, 2006.
Revision received October 9, 2006.
Accepted for publication October 30, 2006.
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Abstract
Introduction
