Case Presentation: Budd Chiari is a rare disorder caused by hepatic venous outflow obstruction with resulting hepatic dysfunction. It affects 1.4 per million people a year, and presentation depends upon the extent and rapidity of hepatic vein occlusion. This case is noteworthy given it presents the rapid progression of liver dysfunction in the setting of newly diagnosed Budd Chiari. Case of a 36 years old female with history of Budd Chiari, Anti-Phospholipid Syndrome and factor V Leiden heterozygous mutation who was in good health until she presented with acute abdominal pain and distention with associated nausea, vomiting and decreased appetite. Labs on admission were notable for ALT 175 U/L, AST 114 U/L, bilirrubin 2.7 mg/dl, INR 1.5 and decreased platelets at 50 u/L. Abdominal doppler was notable for complete occlusion of the portal vein and its branches, hepatic veins, and splenic veins with patent hepatic arteries. She was immediately started on a heparin drip and underwent serial paracentesis for symptomatic relief of ascites. Subsequent liver biopsy showed moderate hepatic congestion and sinusoidal dilation consistent with Budd Chiari. Her liver function continued to worsen and within 3 days her liver enzymes peaked at ALT 687 U/L and AST 1568 U/L. She underwent direct intrahepatic portocaval shunt (DIPS) procedure on day 6 with improvement in her liver enzymes and INR post procedure. She was discharged in stable condition but given severe damage is now actively listed for liver transplant.
Discussion: Given that Budd Chiari Syndrome (BCS) can lead to potentially life-threatening liver failure and portal hypertension related complications, early diagnosis and treatment is imperative. Clinical manifestations develop rapidly and may include, abdominal pain and distension, gastrointestinal bleeding, jaundice and/or hepatic encephalopathy. Certain risk factors such as, prothrombotic states can predispose to BCSC making it imperative to include the diagnosis when treating patients with acute liver dysfunction and Factor V Leiden mutation.
Early diagnosis is primarily based on imaging that help assess the location of the obstruction. Doppler Ultrasound has the highest sensitivity (over 85%) and should be the first modality chosen. Once diagnosed, the recommended therapeutic approach is based on anticoagulation followed by more invasive approaches such as angioplasty and stenting, placement of transjugular portosystemic shunt (TIPS), and liver transplantation as a rescue treatment.
Early recognition and treatment is crucial as it can significantly improve patients’ survival rate. There are very few literature cases that present Budd Chiari as a cause for acute liver dysfunction. For this reason, this case is important for broadening the clinical knowledge of such disease and to create an awareness and high level of suspicion when such patients present in the clinical setting.
Conclusions: At least 75% of patients with primary Budd Chiari have an underlying prothrombotic condition that predisposes them to such disease. In this case the patient had a history of Factor V Leiden and APLS both prothrombotic states that increase her risk for clot formation and its associated complications. Thorough patient history, workup and imaging are crucial for the diagnosis and management of Budd Chiari.