Budd–Chiari syndrome

Disease Description (Causes and Symptoms)

• Definition summary: A disease in which blockage of blood outflow from the liver (the hepatic veins or inferior vena cava) causes hepatic congestion and reduced liver function.
• Main causes
  • Thrombotic causes (common in the West): Hypercoagulable states (myeloproliferative disorders—especially polycythemia vera, paroxysmal nocturnal hemoglobinuria, antiphospholipid antibody syndrome, protein C/S or antithrombin deficiency, etc.), cancer, pregnancy·contraceptive use·infection, etc.
  • Membranous obstruction (relatively common in the East): Membranous obstruction of the inferior vena cava (MOVC)—thought to be associated with thrombosis related to phlebitis or infection.
• Pathophysiology (brief): Hepatic vein/inferior vena cava obstruction → increased venous pressure within the liver → centrilobular congestion → hepatocellular ischemia·necrosis → fibrosis and development of portal hypertension.
• Main symptoms
  • Acute/fulminant: Severe upper abdominal pain, vomiting, acute hepatomegaly, jaundice, ascites, and possible hepatic coma.
  • Subacute/chronic: Abdominal pain over several weeks to months, hepatomegaly, gradually progressive ascites, portal hypertension (such as esophageal varices), and signs of cirrhosis may be present at diagnosis.

Treatment Methods and Precautions

• Initial·general principles: Prevent progression of thrombosis, relieve hepatic congestion, and prevent and treat complications (ascites·malnutrition·portal hypertension).
• Drug treatment
  • Anticoagulation (initial standard in most cases): Low-molecular-weight heparin → consider a vitamin K antagonist or direct oral anticoagulant (DOAC) (determined according to bleeding risk·underlying disease).
  • Thrombolysis when necessary (in selected situations, when the risk of bleeding is low).
  • Conservative treatment: Diuretics (for ascites control), salt restriction, nutritional supplementation, treatment of infections, etc.
• Interventional·surgical treatment
  • Angioplasty (interventional percutaneous balloon dilation/stent placement)—when the obstructed area can be reconstructed.
  • TIPS (transjugular intrahepatic portosystemic shunt): Used to control portal hypertension·ascites·recurrent variceal bleeding.
  • Liver transplantation: When there is no improvement with conservative·interventional treatment or in cases of end-stage liver failure·irreversible disease.
• Simultaneous treatment of the underlying disease: Management of myeloproliferative disorders, cancer, pregnancy-related conditions, etc.
• Precautions and complications
  • Risk of bleeding during anticoagulant treatment (regular monitoring is necessary).
  • Esophageal variceal bleeding due to portal hypertension, hepatic encephalopathy, and worsening kidney function (hepatorenal syndrome) may occur.
  • Specialized adjustment is necessary in situations involving bleeding or thrombotic risk, such as pregnancy·surgery.

Checklist Before an Outpatient Visit (Items to Bring and Example Questions)

• Items to bring
  • List of currently used medications (including anticoagulants·contraceptives·hormonal medications).
  • Previous test results (ultrasound, CT, MRI, blood tests, liver function levels, coagulation tests, etc.) and imaging CDs or reports.
  • History of existing diseases and surgeries (history of thrombosis, cancer, myeloproliferative disorders, etc.).
  • Symptom records: Onset, progression, location·severity of pain, changes in ascites, symptoms suggesting gastrointestinal bleeding, etc.
  • Family history (thrombotic diseases, liver disease, etc.).
• Examples of information to organize before the outpatient visit
  • Recent weight changes (whether weight gain is due to ascites), changes in urine output, and presence or absence of jaundice·coma symptoms.
  • For women, whether they are pregnant or their method of contraception, and whether they are receiving hormone treatment.

General Example Questions to Ask the Doctor

• What do you think is the cause of this disease? Will additional tests (e.g., JAK2, PNH testing, antiphospholipid antibody testing, etc.) be necessary?
• What standard treatment should I receive (whether to start anticoagulation and for how long)? How is bleeding managed during anticoagulation?
• Is TIPS or angioplasty necessary in my situation, and if so, what are the risks and expected benefits?
• If a liver transplant is necessary, how is that decision made? What is the prognosis?
• What should I be careful about regarding lifestyle habits (diet·exercise·pregnancy planning·alcohol consumption, etc.)?

Examples of Disease-Specific Questions

• Based on my test results/imaging findings, how can you distinguish whether I have inferior vena cava (MOVC) obstruction or hepatic vein thrombosis? What additional imaging tests are needed?
• Do I need testing for the JAK2 mutation or paroxysmal nocturnal hemoglobinuria (PNH)? How would the treatment plan change depending on the results?

Additional Information

• Diagnosis is often suspected through ultrasound·CT·MRI and confirmed by angiography (venography).
• The prognosis varies greatly depending on the duration of obstruction and the timing of treatment. Early diagnosis·intervention (angioplasty·anticoagulation·TIPS, etc.) improves the prognosis.
• Because this disease is relatively rare, it is not usually suspected before common causes of ascites or upper abdominal pain; however, it must be included in the differential diagnosis when there is unexplained ascites·signs of cirrhosis.