Literature DB >> 24165501

Standard anticoagulation for mesenteric vein thrombosis, revealing a 'zebra' diagnosis: hereditary haemorrhagic telangiectasia--the dripping truth!

Aakash Aggarwal1, Arundeep Singh Kahlon, Meghan Rane, Emerald Banas.   

Abstract

A 60-year-old man was treated in the hospital for mesenteric vein thrombosis and discharged home on anticoagulation. On warfarin the patient started to bleed profusely from the nose and tongue. He was evaluated by ENT (ears, nose and throat); a nasal endoscopy revealed several vascular ectasias. Subsequent detailed history and general physical examination established the diagnosis of hereditary haemorrhagic telangiectasia also known as Osler-Weber-Rendu syndrome. On further evaluation, pulmonary arteriovenous malformations were diagnosed on imaging and treated by intervention radiology. In hindsight, the diagnosis could have been made in the general practitioner's office with just a routine thorough history and a physical examination at a new patient visit. We report this case to stress upon the importance of vigilant clinical, medical and family history and a thorough examination to establish an early diagnosis of this not-so-rare entity.

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Year:  2013        PMID: 24165501      PMCID: PMC3822051          DOI: 10.1136/bcr-2013-200045

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  14 in total

1.  Screening in hereditary hemorrhagic telangiectasia patients.

Authors:  M E Faughnan; R H Hyland; K Nanthakumar; D A Redelmeier
Journal:  Chest       Date:  2000-08       Impact factor: 9.410

2.  The role of echocardiography in screening for pulmonary arteriovenous malformations.

Authors:  James R Gossage
Journal:  Chest       Date:  2003-02       Impact factor: 9.410

3.  Pulmonary nodular opacities in children with hereditary hemorrhagic telangiectasia.

Authors:  David Manson; Jeffrey Traubici; Meir Mei-Zahav; Ian MacLuskey; Philip John; Derek Stephens
Journal:  Pediatr Radiol       Date:  2007-01-05

4.  Hereditary hemorrhagic telangiectasia: epistaxis and hemoptysis.

Authors:  Sudip Nanda; Surya P Bhatt
Journal:  CMAJ       Date:  2009-04-14       Impact factor: 8.262

5.  Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.

Authors:  Friederike Gedge; Jamie McDonald; Amit Phansalkar; Lan-Szu Chou; Fernanda Calderon; Rong Mao; Elaine Lyon; Pinar Bayrak-Toydemir
Journal:  J Mol Diagn       Date:  2007-04       Impact factor: 5.568

6.  Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).

Authors:  C L Shovlin; A E Guttmacher; E Buscarini; M E Faughnan; R H Hyland; C J Westermann; A D Kjeldsen; H Plauchu
Journal:  Am J Med Genet       Date:  2000-03-06

7.  Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.

Authors:  Jennifer Richards-Yutz; Kathleen Grant; Elizabeth C Chao; Susan E Walther; Arupa Ganguly
Journal:  Hum Genet       Date:  2010-04-23       Impact factor: 4.132

Review 8.  Hereditary haemorrhagic telangiectasia.

Authors:  A A Sharathkumar; A Shapiro
Journal:  Haemophilia       Date:  2008-11       Impact factor: 4.287

9.  MR angiography for detection of pulmonary arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia.

Authors:  Guenther Schneider; Michael Uder; Michael Koehler; Miles A Kirchin; Alexander Massmann; Arno Buecker; Urban Geisthoff
Journal:  AJR Am J Roentgenol       Date:  2008-04       Impact factor: 3.959

10.  New definition and natural history of patients with diffuse pulmonary arteriovenous malformations: twenty-seven-year experience.

Authors:  Paola Pierucci; Joshua Murphy; Katharine J Henderson; Deborah A Chyun; Robert I White
Journal:  Chest       Date:  2008-01-15       Impact factor: 9.410

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