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
Creating a Digital Object Identifier Link

A digital object identifier (DOI) can be used to cite and link to electronic documents. A DOI is guaranteed never to change, so you can use it to link permanently to electronic documents.

To find a document using a DOI

  1. Copy the DOI of the document you want to open.
    The correct format for citing a DOI is as follows: doi:10.1016/S0140-6736(08)61345-8
  2. Open the following DOI site in your browser:
    dx.doi.org
  3. Enter the entire DOI citation in the text box provided, and then click Go.
    The document that matches the DOI citation will display in your browser window.

The DOI scheme is administered by the International DOI Foundation. Many of the world's leading publishers have come together to build a DOI-based document linking scheme known as CrossRef.

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

ABSTRACT

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.