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Case Reports
. 2015 Mar;7(3):125-8.
doi: 10.4103/1947-2714.153928.

Hereditary hemorrhagic telangiectasia

Nagesh Kamath  1 , Sumit Bhatia  1 , Harneet Singh  1 , Anurag Shetty  1 , Shiran Shetty  1
Affiliations
Case Reports

Hereditary hemorrhagic telangiectasia

Nagesh Kamath et al. N Am J Med Sci. 2015 Mar.

Abstract

Background: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder, which affects various internal organs and has a tendency for bleeding. It has a classic triad of mucocutaneous telangiectasias, recurrent hemorrhages and positive familial history of first-degree relative. Epistaxis or gastrointestinal telangiectasia can be fatal in a small number of cases.

Case report: A 44-year-old woman came with complaints of recurrent episodes of hematemesis and epistaxis. Patient had a family history of similar complaints. Patient underwent esophagogastroduodenoscopy (EGD), which revealed telangiectasia in the stomach. Imaging of the abdomen showed features suggestive of arteriovenous shunting.

Conclusion: HHT can remain undiagnosed for a long time, and is rarely being reported in the literature with management needing a multidisciplinary approach with early inputs from a gastroenterologist.

Keywords: Anemia; Arteriovenous malformation; Epistaxis; Hereditary hemorrhagic telangiectasia; Osler-Weber-Rendu.

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Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1
Figure 1
Endoscopic image showing multiple telangiectasias in body
Figure 2
Figure 2
Endoscopic image showing multiple telangiectasias in the antrum
Figure 3
Figure 3
CT image showing hepatic telangiectasia
Figure 4
Figure 4
CT image showing arteriovenous shunting
See this image and copyright information in PMC

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