Upper gastrointestinal bleeding in a young patient with Budd Chiari syndrome due to a mutation of factor V Leiden: a case report

J Gastrointestin Liver Dis. 2013 Jun;22(2):213-5.

Abstract

Budd Chiari syndrome or hepatic venous outflow obstruction is a complex entity with multiple etiologies and various clinical manifestations. It is often difficult to establish the diagnosis. The most common cause is a hypercoagulable state due to either genetic disorders of blood coagulation or several acquired conditions such as hematological diseases, tumors, infections, chronic inflammatory diseases, pregnancy. The most common clinical presentation is hepatomegaly, abdominal pain and ascites, but the onset can also be dramatical and life threatening with upper digestive bleeding due to portal hypertension through postsinusoidal blockage. We report the case of a young patient with a coagulation disorder secondary to a mutation of factor V Leiden, who presented with upper digestive bleeding as the first manifestation of Budd Chiari syndrome and who also was associated with myocardial infarction in his past medical history.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anticoagulants / therapeutic use
  • Blood Coagulation / drug effects
  • Blood Coagulation / genetics*
  • Blood Coagulation Disorders, Inherited / blood
  • Blood Coagulation Disorders, Inherited / complications*
  • Blood Coagulation Disorders, Inherited / diagnosis
  • Blood Coagulation Disorders, Inherited / drug therapy
  • Blood Coagulation Disorders, Inherited / genetics
  • Budd-Chiari Syndrome / blood
  • Budd-Chiari Syndrome / diagnosis
  • Budd-Chiari Syndrome / drug therapy
  • Budd-Chiari Syndrome / etiology*
  • DNA Mutational Analysis
  • Factor V / genetics*
  • Gastrointestinal Hemorrhage / etiology*
  • Humans
  • Hypertension, Portal / diagnosis
  • Hypertension, Portal / etiology*
  • Male
  • Mutation*
  • Predictive Value of Tests
  • Treatment Outcome
  • Ultrasonography, Doppler, Color

Substances

  • Anticoagulants
  • factor V Leiden
  • Factor V