Hereditary Hemorrhagic Telangiectasia

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. Epi...

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Detalles Bibliográficos
Autores principales: Kamath, Nagesh, Bhatia, Sumit, Singh, Harneet, Shetty, Anurag, Shetty, Shiran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382768/
https://www.ncbi.nlm.nih.gov/pubmed/25839006
http://dx.doi.org/10.4103/1947-2714.153928
Descripción
Sumario: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.

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