Literature DB >> 27114237

[Rendu-Osler-Weber disease : More than just a nosebleed].

E Lücke1, J Schreiber1, M Zencker2, R Braun-Dullaeus3, J Herold4.   

Abstract

A 72-year-old female patient presented with increasing dyspnea of unclear origin classified as New York Heart Association stage III (NYHA III). Using transesophageal echocardiography a patent foramen ovale (PFO) and right heart failure could be diagnosed. Right heart catheterization revealed a large left to right shunt due to an arteriovenous malformation in the liver. Because of additional telangiectasia of the lips the presumptive diagnosis was Rendu-Osler-Weber disease. Typical nosebleeds and other symptoms of the disease were lacking and only two out of four Curaçao criteria were positive; therefore, genetic testing was performed, which verified the clinical diagnosis. Off-label use of the angiogenesis inhibitor bevacizumab was initiated as the therapeutic strategy and led to an improvement in the symptomatic dyspnea.

Entities:  

Keywords:  Arteriovenous malformations; Bevacizumab; Dyspnea; Genetic testing; Telangiectasia, hereditary hemorrhagic

Mesh:

Substances:

Year:  2016        PMID: 27114237     DOI: 10.1007/s00108-016-0047-5

Source DB:  PubMed          Journal:  Internist (Berl)        ISSN: 0020-9554            Impact factor:   0.743


  8 in total

1.  Bevacizumab in hereditary hemorrhagic telangiectasia.

Authors:  Prithviraj Bose; Jennifer L Holter; George B Selby
Journal:  N Engl J Med       Date:  2009-05-14       Impact factor: 91.245

2.  More on bevacizumab in hereditary hemorrhagic telangiectasia.

Authors:  Sjoukje Oosting; Wouter Nagengast; Elisabeth de Vries
Journal:  N Engl J Med       Date:  2009-08-27       Impact factor: 91.245

3.  Dramatic improvement in hereditary hemorrhagic telangiectasia after treatment with the vascular endothelial growth factor (VEGF) antagonist bevacizumab.

Authors:  Dimitri Flieger; Sabine Hainke; Wolfgang Fischbach
Journal:  Ann Hematol       Date:  2006-06-29       Impact factor: 3.673

4.  Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population.

Authors:  H Plauchu; J P de Chadarévian; A Bideau; J M Robert
Journal:  Am J Med Genet       Date:  1989-03

5.  Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients.

Authors:  A D Kjeldsen; P Vase; A Green
Journal:  J Intern Med       Date:  1999-01       Impact factor: 8.989

Review 6.  Hereditary hemorrhagic telangiectasia.

Authors:  A E Guttmacher; D A Marchuk; R I White
Journal:  N Engl J Med       Date:  1995-10-05       Impact factor: 91.245

7.  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

8.  Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia.

Authors:  Loukas Argyriou; Stefan Twelkemeyer; Irakli Panchulidze; Lars-Erik Wehner; Ute Teske; Wolfgang Engel; Karim Nayernia
Journal:  Int J Mol Med       Date:  2006-04       Impact factor: 4.101

  8 in total

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