What is Budd-Chiari syndrome?

From the Guidelines

Budd-Chiari syndrome is a rare condition characterized by the obstruction of hepatic venous outflow, which can lead to serious complications like portal hypertension and liver failure, and its management should prioritize anticoagulation therapy and consideration of invasive procedures like TIPS or liver transplantation in severe cases. This condition is defined as the obstruction of hepatic venous outflow that can be located from the small hepatic venules up to the entrance of the IVC into the right atrium 1. The pathophysiological consequences of Budd-Chiari syndrome include obstruction, which leads to sinusoidal congestion, ischemia, and finally hepatocellular necrosis, resulting in centrilobular fibrosis, nodular regenerative hyperplasia, and/or cirrhosis.

Causes and Classification

The blockage typically results from blood clots, but can also be caused by tumors, infections, or congenital abnormalities. Budd-Chiari syndrome can be classified into primary, caused by thrombosis in the absence of compression by space-occupying lesions, or invasion by malignancy or parasites, and secondary, which is caused by other factors 1.

Treatment

Treatment depends on the severity and cause, often including anticoagulation medications like warfarin or heparin to prevent further clotting and dissolve existing clots, with dosing individualized based on patient factors and monitored through blood tests 1. In severe cases, more invasive procedures may be necessary, such as thrombolytic therapy to dissolve clots, angioplasty with stenting to open blocked veins, or transjugular intrahepatic portosystemic shunt (TIPS) to create an alternative blood flow pathway. TIPS is recommended for patients who fail to respond to medical therapy with anticoagulation or hepatic vein interventions 1. Liver transplantation may be required in cases of end-stage liver disease, especially for patients with poor prognostic scores or those who do not respond to anticoagulation and radiological therapies 1.

Management Approach

The management of Budd-Chiari syndrome should be tailored to the individual patient, considering the severity of the disease, the presence of underlying prothrombotic conditions, and the patient's overall health status. Patients with Budd-Chiari syndrome should receive anticoagulant therapy as soon as possible for an indefinite period of time 1. The use of low molecular weight heparin (LMWH) and oral anticoagulant treatment with vitamin K antagonists (VKA) is recommended, aiming for an international normalized ratio (INR) between 2 and 3. The treatment of the underlying prothrombotic cause should be initiated concomitantly, and the patient should be monitored closely for signs of bleeding or thrombosis.

Key Considerations

Early diagnosis and treatment are crucial to prevent permanent liver damage, as the condition disrupts the normal blood flow pattern through the liver, leading to increased pressure in the portal venous system and compromised liver function. All patients with Budd-Chiari syndrome should be managed in centers of high expertise, which are either transplant centers or have formal links with a liver transplant center 1. This approach ensures that patients receive comprehensive care, including medical therapy, radiological interventions, and consideration for liver transplantation when necessary.

From the Research

Definition and Characteristics of Budd-Chiari Syndrome

• Budd-Chiari syndrome (BCS) is a rare disease characterized by hepatic venous outflow tract obstruction (HVOTO) 2.
• It is primarily caused by thrombosis, with most patients having at least one risk factor for venous thrombosis 2.
• Myeloproliferative neoplasms are present in approximately 40% of patients, often associated with the V617F-JAK2 mutation in myeloid cells 2.

Clinical Presentation and Diagnosis

• Presentation and symptoms of BCS can vary, making it essential to consider this diagnosis in any patient with acute or chronic liver disease 2.
• Doppler ultrasound, computed tomography, or magnetic resonance imaging of the hepatic veins and inferior vena cava can provide noninvasive identification of the obstruction or its consequences 2.
• Liver biopsies may show evidence of severe pericentral necrosis, as seen in patients with acute liver failure due to BCS 3.

Treatment and Management

• The therapeutic strategy for BCS includes anticoagulation, correction of risk factors, diuretics, and prophylaxis for portal hypertension, followed by angioplasty, transjugular intrahepatic portosystemic shunt (TIPS), and finally liver transplantation 2.
• Early radiological intervention and hematological screening are associated with excellent outcomes in BCS 4.
• Anticoagulation and primary radiological interventions, such as TIPS and/or angioplasty, can result in improved survival rates and excellent medium-term outcomes 4.

Prognosis and Outcomes

• The reported life expectancy in patients with BCS is approximately 3 years after the first symptoms 2.
• However, with proper treatment, the 5-year survival rate can be nearly 85% 2.
• The medium-term prognosis depends on the severity of liver disease, and the long-term outcome can be jeopardized by transformation of underlying conditions and hepatocellular carcinoma 2.
• In-hospital mortality for patients with acute liver failure due to BCS can be approximately 60% 3.