Budd-Chiari syndrome is hepatic venous outflow tract obstruction due to either primary vascular occlusion (thrombosis) or secondary occlusion from extrinsic compression (eg, malignancy). Depending on the acuity of the vascular occlusion and the degree of vascular compromise, presentation can range from asymptomatic to fulminant liver failure. Budd-Chiari syndrome may be associated with high mortality.

In the United States, Budd-Chiari syndrome typically presents in patients in their 30s or 40s with a slight female predominance, but it can occur in patients of all ages. The clinical presentation of Budd-Chiari syndrome varies based on the acuity of vascular compromise. Patients with acute hepatic venous outflow tract obstruction do not have collateral hepatic blood flow, resulting in ischemic hepatitis that can rapidly progress to fulminant liver failure. Patients with subacute obstruction may develop signs of liver failure over months, but will often develop collateral flow and not progress to advanced liver failure. Chronic Budd-Chiari syndrome can present with cirrhosis, which often results from months or years of outflow tract obstruction and subsequent ischemic hepatic injury.

Acute Budd-Chiari syndrome will present with the sequelae of acute liver failure: abdominal pain, ascites, jaundice, lower extremity edema, hepatic encephalopathy, and potentially gastrointestinal bleeding. Chronic Budd-Chiari syndrome can often be asymptomatic, and cirrhosis can be detected incidentally on imaging or laboratory testing demonstrating synthetic liver dysfunction.

Patients with underlying hypercoagulable states, most frequently myeloproliferative neoplasms, are at highest risk for primary Budd-Chiari syndrome, and multiple genes have been associated. Patients with malignancies or inflammatory conditions involving the gastrointestinal tract are at highest risk for development of secondary Budd-Chiari syndrome.

Budd-Chiari syndrome is readily diagnosed via abdominal ultrasound with Doppler flow demonstrating occlusive clot in the hepatic venous outflow tracts. CT or MRI or venography can also demonstrate clot burden if an ultrasound is inconclusive. Clinicians should be careful to exclude other etiologies of liver failure that can predispose patients to developing hepatic venous outflow tract obstruction that is either nonocclusive or not the primary etiology of the patient's liver failure.

For patients with acute Budd-Chiari syndrome and fulminant liver failure, urgent liver transplant evaluation should be completed. In less severe cases, thrombolytics, anticoagulation, stenting, and potential transjugular intrahepatic portosystemic shunt (TIPS) placement are the hallmarks of therapy.