Endoscopy 2007; 39(6): 516-520
DOI: 10.1055/s-2007-966349
Original article

© Georg Thieme Verlag KG Stuttgart · New York

Evaluation of patients with hereditary hemorrhagic telangiectasia with video capsule endoscopy: a single-center prospective study

S.  M.  Chamberlain1 , J.  Patel2 , J.  Carter Balart1 , J.  R.  Gossage Jr3 , S.  Sridhar1
  • 1Section of Gastroenterology, Medical College of Georgia, Augusta, Georgia, USA
  • 2Section of Internal Medicine, Medical College of Georgia, Augusta, Georgia, USA
  • 3Section of Pulmonary Medicine, Medical College of Georgia, Augusta, Georgia, USA
Further Information

Publication History

submitted 26 September 2006

accepted after revision 20 December 2006

Publication Date:
06 June 2007 (online)

Background and study aims: Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder characterized by telangiectasia formation that can lead to small-bowel bleeding. In this study, video capsule endoscopy was used to compare the small-bowel findings observed in patients with HHT with those seen in patients without the condtion.

Patients and methods: We performed capsule endoscopy studies in 93 consecutive patients who were being evaluated for small-bowel bleeding, 38 patients with known or suspected HHT and 55 patients without HHT. Nine patients were excluded because the capsule failed to reach the cecum. The findings in 32 patients with a final diagnosis of HHT and in 48 patients without HHT were recorded and compared.

Results: Capsule endoscopy detected telangiectases evenly distributed throughout the small bowel in 26/32 (81 %) patients with HHT, compared with 14/48 (29 %) in patients without HHT. When active bleeding was observed in patients with HHT (n = 4), the bleeding was within reach of standard small-bowel push enteroscopy in all cases. The presence of five or more gastrointestinal telangiectases by capsule endoscopy had a sensitivity of 75 % and a positive predictive value of 86 % for diagnosing HHT. Unexpected findings (small-bowel polyps and mass-like lesions) were seen in both groups of patients (6.2 % in patients with HHT and 2.1 % in patients without HHT).

Conclusions: Small-bowel telangiectases were seen in the majority of patients with HHT and were evenly distributed throughout the small bowel. Telangiectases were observed in only a minority of patients who did not have HHT. Actively bleeding small-bowel telangiectases were located in the proximal and mid- small bowel in patients with HHT, all within reach of an enteroscope. We propose a cutoff point of at least five gastrointestinal telangiectases to support a diagnosis of HHT.

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S. Sridhar, MD

Section of Gastroenterology and Hepatology

Medical College of Georgia

BBR 2544

15th Street

Augusta

Georgia 30912-3120

USA

Fax: +1-706-72100331

Email: ssridhar@mcg.edu