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

Authors :
Lücke E
Schreiber J
Zencker M
Braun-Dullaeus R
Herold J
Source :
Der Internist [Internist (Berl)] 2016 Jun; Vol. 57 (6), pp. 610-5.
Publication Year :
2016

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.

Details

Language :
German
ISSN :
1432-1289
Volume :
57
Issue :
6
Database :
MEDLINE
Journal :
Der Internist
Publication Type :
Academic Journal
Accession number :
27114237
Full Text :
https://doi.org/10.1007/s00108-016-0047-5