title: [42-year-old patient with portal hypertension - case 6/2012].
abstract: METHODS
  A 42-year-old woman was referred with a bleeding in the upper gastrointestinal tract, varices in the fundus of the stomach and portal hypertension of unknown primary.
  
  
  METHODS
  Ultrasound examinations showed splenomegaly as well as portal hypertension. Blood examinations revealed low levels of haemoglobin. CT imaging showed multiple arteriovenous malformations with arterioportal shunts within the liver which led to a volume-induced portal hypertension. The genetic analysis revealed no mutations in the activin receptor-like kinase (ALK) 1 or endoglin genes.
  
  
  METHODS
  The patient was clinically diagnosed with hereditary hemorrhagic teleangiectasia, also known as Osler-Weber-Rendu disease. Because of the multiple arterioportal shunts within the liver and the resulting portal hypertension with live-threatening gastrointestinal bleeding, the only therapeutic option for the patient is liver transplantation. Therefore, an application for a standard exception was made at Eurotransplant and the patient is going to be liver transplantated within the next months.
  
  
  CONCLUSIONS
  Osler-Weber-Rendu disease is an autosomal dominant hereditary disease which leads to arteriovenous malformations and which can affect different organ systems. The course of the disease can be rather benign, but it can also lead to live-threatening complications requiring fast interventions.
authors: Medizinische Klinik, Innere Medizin I, Universitätsklinikum Tübingen. josef.leibold@med.uni-tuebingen.de
authors: Josef
authors: J
authors: Leibold
authors: Serkan
authors: S
authors: Karakaya
authors: Birgit
authors: B
authors: Federmann
authors: Michaela
authors: M
authors: Rockenstiehl
authors: Stephan
authors: S
authors: Heller
authors: Judith
authors: J
authors: Feucht
authors: Nisar
authors: N
authors: Malek
authors: Ulrich M
authors: UM
authors: Lauer
mesh_terms: D000328:Adult; D005260:Female; D006471:Gastrointestinal Hemorrhage / Q000175:diagnosis* / Q000209:etiology* / Q000601:surgery; D006801:Humans; D006975:Hypertension, Portal / Q000175:diagnosis* / Q000209:etiology* / Q000601:surgery; D016031:Liver Transplantation; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications* / Q000175:diagnosis* / Q000601:surgery