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CASE REPORT
Year : 2022  |  Volume : 2  |  Issue : 2  |  Page : 71-73

Rare genetic disorder unveiled on evaluation of occult gastrointestinal bleed


Department of Hepatology and Transplant Hepatology, Gleneagles Global Health City, Chennai, Tamil Nadu, India

Correspondence Address:
Jo Varghese
Department of Hepatology and Transplant Hepatology, Gleneagles Global Health City, Chennai - 600 100, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ghep.ghep_3_22

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The incidence of gastrointestinal (GI) bleed secondary to vascular ectasias in GI tract remains very less, accounting to only about 4%–5% of nonvariceal bleed. Most patients remain asymptomatic unless evident as iron deficiency anemia. We report of similar case scenario in a 65-year-old man who presented with recurrent anemia, treated with multiple blood transfusions for 6 years. The patient was found to have multiple lingual, nasal, gastric, and duodenal telangiectasias with arteriovenous malformations in the liver and lung. Considering the history, clinical findings, and investigations, a diagnosis of Osler-Weber-Rendu syndrome/hereditary hemorrhagic telangiectasia was made based on Curaçao criteria and the patient was treated with tamoxifen and argon plasma coagulation.


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