Hereditary hemorrhagic telangiectasia: A rare cause of severe anemia
Journal Title: International Journal of Medical Science and Innovative Research (IJMSIR) - Year 2018, Vol 3, Issue 12
Abstract
Hereditary hemorrhagic telangiectasia (HHT) is an uncommon autosomal dominant inherited multisystem disorder in which abnormal arteriovenous communications (telangiectasias) develops which characteristically affects small blood vessels in the skin, mucous membranes, gastrointestinal tract & organs such as liver, lungs and brain causing vascular dysplasia and tendency for bleeding. This is a rare condition which often goes unrecognized & misdiagnosed because of its non specific symptoms which vary among affected population. HHT, though usually presents as recurrent epistaxis, gastrointestinal bleeding & arteriovenous malformations, iron deficiency anemia is found in few patients of HHT and is usually mild. Concomitant severe anemia in HHT is rarely seen and is found in elderly. This article presents a case of a 30 year old man presented with recurrent epistaxis since childhood. Investigating results showed multiple telangiectasias in gastrointestinal tract, hemangiomas in liver & arteriovenous malformations (AVMs) in lungs. Based on Curacao criteria, it was diagnosed as severe iron deficiency anemia with hereditary hemorrhagic telangiectasia.
Authors and Affiliations
Dr Pradeep Mital
Keywords
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