[Rendu-Osler-Weber disease : More than just a nosebleed].
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.
Klinik für Pneumologie, Universitätsklinikum Magdeburg A.ö.R., Otto-von-Guericke-Universität Magdeburg, Magdeburg, Deutschland.
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Lücke
Klinik für Pneumologie, Universitätsklinikum Magdeburg A.ö.R., Otto-von-Guericke-Universität Magdeburg, Magdeburg, Deutschland.
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Schreiber
Institut für Humangenetik, Universitätsklinikum Magdeburg A.ö.R., Otto-von-Guericke-Universität Magdeburg, Magdeburg, Deutschland.
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Zencker
Klinik für Kardiologie und Angiologie, Universitätsklinikum Magdeburg A.ö.R., Otto-von-Guericke-Universität Magdeburg, Leipziger Str. 44, 39120, Magdeburg, Deutschland.
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Braun-Dullaeus
Klinik für Kardiologie und Angiologie, Universitätsklinikum Magdeburg A.ö.R., Otto-von-Guericke-Universität Magdeburg, Leipziger Str. 44, 39120, Magdeburg, Deutschland. joerg_herold@hotmail.com.
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Herold
D000368:Aged; D020533:Angiogenesis Inhibitors / Q000008:administration & dosage; D000068258:Bevacizumab / Q000008:administration & dosage*; D003937:Diagnosis, Differential; D017548:Echocardiography, Transesophageal / Q000379:methods; D004844:Epistaxis / Q000175:diagnosis; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D006333:Heart Failure / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis* / Q000188:drug therapy* / Q000235:genetics
D020533:Angiogenesis Inhibitors; D000068258:Bevacizumab
Arteriovenous malformations; Bevacizumab; Dyspnea; Genetic testing; Telangiectasia, hereditary hemorrhagic