title: [Non-cirrhotic portal hypertension with nearly lethal consequences].
abstract: We describe the case of a 48-year-old patient presenting with abdominal pain with a history of cerebral ischemia due to a patent foramen ovale with heterozygous factor V mutation. Initial work-up demonstrate a significant thrombosis of the portal venous system combined with signs of portal hypertension (ascites, oesophageal varices). Ultrasound reveals no signs of cirrhosis of the liver. Finally a JAK2 mutation can be detected. Prevention of oesophageal varices is refused. Finally a massive haemorrhage occured.
authors.affiliation: Departement Innere Medizin, Kantonsspital St. Gallen, Spital Rorschach.
authors.forename: Nele
authors.initials: N
authors.lastname: Börner
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Korte
authors.forename: Christian
authors.initials: C
authors.lastname: Doenecke
authors.forename: Maurus
authors.initials: M
authors.lastname: Pfister
authors.forename: Christa
authors.initials: C
authors.lastname: Meyenberger
authors.forename: David
authors.initials: D
authors.lastname: Semela
authors.forename: Mikael
authors.initials: M
authors.lastname: Sawatzki
mesh_terms: D015746:Abdominal Pain / Q000209:etiology; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004636:Emergency Service, Hospital; D004932:Esophageal and Gastric Varices / Q000175:diagnosis* / Q000235:genetics; D005165:Factor V / Q000235:genetics; D005260:Female; D006801:Humans; D006975:Hypertension, Portal / Q000175:diagnosis* / Q000209:etiology* / Q000235:genetics; D053614:Janus Kinase 2 / Q000235:genetics; D008875:Middle Aged; D011169:Portal Vein; D013152:Splanchnic Circulation; D013927:Thrombosis / Q000175:diagnosis* / Q000235:genetics; D014463:Ultrasonography
chemical_list: C095381:factor V Leiden; D005165:Factor V; C507924:JAK2 protein, human; D053614:Janus Kinase 2