A Young Boy with Budd Chiari Syndrome Secondary Heterozygous to Factor V Leiden – a Case Report

Budd Chiari syndrome (BCS) is a rare condition with exact incidence not known. It results from obstruction to the venous outflow of liver anywhere from the hepatic veins till the terminal inferior vena cava. Most cases are idiopathic; commonest cause being hypercoagulable state. Other causes include hepatic or metastatic malignancies, infections, inflammatory bowel disease, Behcet syndrome, aspergillosis and rarely, Inferior vena cava webs. Clinical presentation of BCS is variable. Most of the patients present insidiously with abdominal pain, hepatomegaly and ascites. On rare occasions, onset can be in the form of lethal upper gastrointestinal bleeding due to ruptured esophageal varices. We report a case of BCS secondary to heterozygous factor V Leiden mutation in a young boy. Presentation in our patient was insidious, progressive ascites with abdominal pain.