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[Rendu-Osler-Weber disease : More than just a nosebleed].
- 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.
- Subjects :
- Aged
Angiogenesis Inhibitors administration & dosage
Diagnosis, Differential
Echocardiography, Transesophageal methods
Epistaxis diagnosis
Female
Heart Defects, Congenital genetics
Heart Failure genetics
Humans
Telangiectasia, Hereditary Hemorrhagic genetics
Bevacizumab administration & dosage
Genetic Testing methods
Heart Defects, Congenital diagnosis
Heart Failure diagnosis
Telangiectasia, Hereditary Hemorrhagic diagnosis
Telangiectasia, Hereditary Hemorrhagic drug therapy
Subjects
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