title: Liver transplantation for acute Budd-Chiari syndrome in identical twin sisters with Factor V leiden mutation.
abstract: BACKGROUND
  Budd-Chiari syndrome (BCS) is uncommon in the children. The cause of BCS comprises several diseases leading to thrombophilia. Activated protein C resistance as a result of a single gene mutation in factor V, the so called factor V Leiden (FVL), is the most common cause of thrombophilia.
  
  
  METHODS
  We report a simultaneous occurrence of BCS in identical twin sisters of 13 years of age with heterozygous FVL mutation.
  
  
  RESULTS
  One sister presented with acute BCS leading to fulminant hepatic failure. She underwent liver transplantation with subsequent normalization of activated protein C resistance. The other twin sister, who was diagnosed with extensive thromboses of the inferior vena cava, portal vein, and hepatic veins, was successfully managed by aggressive chemical and mechanical thrombolysis followed by therapeutic anticoagulation. Genomic DNA studies confirmed heterozygosity of FVL mutation in the sisters' father and older brother.
  
  
  CONCLUSIONS
  The exact cause of the BCS in children should be thoroughly and rapidly investigated, and, if necessary, immediate family members should also be tested for genetic defects in factor V or concomitant thrombophilia.
authors.affiliation: Department of Surgery, University of Tennessee, Memphis, Tennessee 38163-2116, USA.
authors.forename: Nosratollah
authors.initials: N
authors.lastname: Nezakatgoo
authors.forename: M Hosein
authors.initials: MH
authors.lastname: Shokouh-Amiri
authors.forename: A Osama
authors.initials: AO
authors.lastname: Gaber
authors.forename: Hani P
authors.initials: HP
authors.lastname: Grewal
authors.forename: Santiago R
authors.initials: SR
authors.lastname: Vera
authors.forename: Abbas A
authors.initials: AA
authors.lastname: Chamsuddin
authors.forename: John K
authors.initials: JK
authors.lastname: Eshun
authors.forename: M
authors.initials: M
authors.lastname: Jeng
mesh_terms: D000293:Adolescent; D006502:Budd-Chiari Syndrome / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery*; D005165:Factor V / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008099:Liver / Q000000981:diagnostic imaging; D016031:Liver Transplantation / Q000276:immunology*; D014430:Twins, Monozygotic; D014463:Ultrasonography
chemical_list: C095381:factor V Leiden; D005165:Factor V