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Hereditary Haemorrhagic Telangiectasia with Thrombocytopenia - A Rare Association with an Atypical Presentation

CASE STUDY, April 2015, VOL III ISSUE I, ISSN 2042-4884
10.5083/ejcm.20424884.135 , Cite or Link Using DOI
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Dr. Padmakumar R MD DNB DM, Dr. Rohith Poondru Reddy MD, Dr. Ashwal A J MD DM, Dr. M Sudhakar Rao MD, Dr Sumit Agarwal MD, Dr. Shrikiran A Hebbar MD


Hereditary Haemorrhagic Telangiectasia (Osler-Rendu-Weber disease) is a rare autosomal dominant disorder commonly affecting small vessels of skin and mucosa. It is usually misdiagnosed because of its atypical presentation. This disease frequently presents as epistaxis, GI bleed and visceral arterio venous malformations. Patient may present with stroke or migraine but presentation due to predominant respiratory symptoms may occur in the presence of pulmonary A-V fistula. We present a 9 yr old male with dyspnoea on exertion and cyanosis and clubbing. He had a past history of intracerebral bleed with thrombocytopenia and he was being treated as ITP. Contrast echo revealed findings suggestive of pulmonary arterio venous fistula which led to subsequent investigations and retrospective evaluation and hence achieving the final diagnosis.