Osler–Weber–Rendu Syndrome

A 58-year-old woman presented with intermittent passage of bright red blood from the rectum, progressive fatigue, and dyspnea. Examination revealed telangiectasias on the labial mucosa and nail folds. Her mother was reported to have frequent epistaxis and similar skin lesions. A 58-year-old woman pr...

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Veröffentlicht in:The New England journal of medicine 2015-09, Vol.373 (13), p.e15
Hauptverfasser: Pérez-Belmonte, Luis M, Gomez-Moyano, Elisabeth
Format: Artikel
Sprache:eng
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Zusammenfassung:A 58-year-old woman presented with intermittent passage of bright red blood from the rectum, progressive fatigue, and dyspnea. Examination revealed telangiectasias on the labial mucosa and nail folds. Her mother was reported to have frequent epistaxis and similar skin lesions. A 58-year-old woman presented with a 6-week history of intermittent passage of bright red blood from the rectum, as well as progressive fatigue and dyspnea. Her medical history included recurrent episodes of spontaneous epistaxis since childhood, but she had never undergone a full evaluation. Physical examination revealed telangiectasias on the labial mucosa (Panel A) and nail folds (Panel B). In addition, her mother was reported to have frequent epistaxis and similar skin lesions. Laboratory test results showed severe iron-deficiency anemia (hemoglobin level, 8.1 g per deciliter; mean corpuscular volume, 72 fl), and lower gastrointestinal endoscopy revealed arteriovenous malformations and telangiectasias . . .
ISSN:0028-4793
1533-4406
DOI:10.1056/NEJMicm1414035